SNP Links for Protein (Select 1034558518) - SNP

Select item 14891448831.

rs1489144883 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:209617550 (GRCh38)
1:209790895 (GRCh37)
Canonical SPDI:: NC_000001.11:209617549:T:C
Gene:: LAMB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.209617550T>C, NC_000001.10:g.209790895T>C, NG_007116.1:g.39926A>G, NM_000228.3:c.3088A>G, NM_000228.2:c.3088A>G, NM_001017402.2:c.3088A>G, NM_001017402.1:c.3088A>G, NM_001127641.1:c.3088A>G, XM_005273124.5:c.3088A>G, XM_005273124.4:c.3088A>G, XM_005273124.3:c.3088A>G, XM_005273124.2:c.3088A>G, XM_005273124.1:c.3088A>G, XM_017001272.3:c.2896A>G, XM_017001272.2:c.2896A>G, XM_017001272.1:c.2896A>G, XM_047420351.1:c.2896A>G, NP_000219.2:p.Thr1030Ala, NP_001017402.1:p.Thr1030Ala, NP_001121113.1:p.Thr1030Ala, XP_005273181.1:p.Thr1030Ala, XP_016856761.1:p.Thr966Ala, XP_047276307.1:p.Thr966Ala

Select item 14885225982.

rs1488522598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:209628130 (GRCh38)
1:209801475 (GRCh37)
Canonical SPDI:: NC_000001.11:209628129:T:A
Gene:: LAMB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.209628130T>A, NC_000001.10:g.209801475T>A, NG_007116.1:g.29346A>T, NM_000228.3:c.1193A>T, NM_000228.2:c.1193A>T, NM_001017402.2:c.1193A>T, NM_001017402.1:c.1193A>T, NM_001127641.1:c.1193A>T, XM_005273124.5:c.1193A>T, XM_005273124.4:c.1193A>T, XM_005273124.3:c.1193A>T, XM_005273124.2:c.1193A>T, XM_005273124.1:c.1193A>T, XM_017001272.3:c.1001A>T, XM_017001272.2:c.1001A>T, XM_017001272.1:c.1001A>T, XM_047420351.1:c.1001A>T, NP_000219.2:p.Gln398Leu, NP_001017402.1:p.Gln398Leu, NP_001121113.1:p.Gln398Leu, XP_005273181.1:p.Gln398Leu, XP_016856761.1:p.Gln334Leu, XP_047276307.1:p.Gln334Leu

Select item 14882252723.

rs1488225272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:209623146 (GRCh38)
1:209796491 (GRCh37)
Canonical SPDI:: NC_000001.11:209623145:G:T
Gene:: LAMB3 (Varview), MIR4260 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209623146G>T, NC_000001.10:g.209796491G>T, NG_007116.1:g.34330C>A, NM_000228.3:c.2392C>A, NM_000228.2:c.2392C>A, NM_001017402.2:c.2392C>A, NM_001017402.1:c.2392C>A, NM_001127641.1:c.2392C>A, XM_005273124.5:c.2392C>A, XM_005273124.4:c.2392C>A, XM_005273124.3:c.2392C>A, XM_005273124.2:c.2392C>A, XM_005273124.1:c.2392C>A, XM_017001272.3:c.2200C>A, XM_017001272.2:c.2200C>A, XM_017001272.1:c.2200C>A, XM_047420351.1:c.2200C>A, NP_000219.2:p.Pro798Thr, NP_001017402.1:p.Pro798Thr, NP_001121113.1:p.Pro798Thr, XP_005273181.1:p.Pro798Thr, XP_016856761.1:p.Pro734Thr, XP_047276307.1:p.Pro734Thr

Select item 14870334474.

rs1487033447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:209650107 (GRCh38)
1:209823452 (GRCh37)
Canonical SPDI:: NC_000001.11:209650106:G:C
Gene:: LAMB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.209650107G>C, NC_000001.10:g.209823452G>C, NG_007116.1:g.7369C>G, NM_000228.3:c.40C>G, NM_000228.2:c.40C>G, NM_001017402.2:c.40C>G, NM_001017402.1:c.40C>G, NM_001127641.1:c.40C>G, XM_005273124.5:c.40C>G, XM_005273124.4:c.40C>G, XM_005273124.3:c.40C>G, XM_005273124.2:c.40C>G, XM_005273124.1:c.40C>G, XM_017001272.3:c.40C>G, XM_017001272.2:c.40C>G, XM_017001272.1:c.40C>G, XM_047420351.1:c.40C>G, NP_000219.2:p.Leu14Val, NP_001017402.1:p.Leu14Val, NP_001121113.1:p.Leu14Val, XP_005273181.1:p.Leu14Val, XP_016856761.1:p.Leu14Val, XP_047276307.1:p.Leu14Val

Select item 14857529945.

rs1485752994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:209623976 (GRCh38)
1:209797321 (GRCh37)
Canonical SPDI:: NC_000001.11:209623975:C:A
Gene:: LAMB3 (Varview), MIR4260 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209623976C>A, NC_000001.10:g.209797321C>A, NG_007116.1:g.33500G>T, NM_000228.3:c.2001G>T, NM_000228.2:c.2001G>T, NM_001017402.2:c.2001G>T, NM_001017402.1:c.2001G>T, NM_001127641.1:c.2001G>T, XM_005273124.5:c.2001G>T, XM_005273124.4:c.2001G>T, XM_005273124.3:c.2001G>T, XM_005273124.2:c.2001G>T, XM_005273124.1:c.2001G>T, XM_017001272.3:c.1809G>T, XM_017001272.2:c.1809G>T, XM_017001272.1:c.1809G>T, XM_047420351.1:c.1809G>T

Select item 14843327356.

rs1484332735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:209623069 (GRCh38)
1:209796414 (GRCh37)
Canonical SPDI:: NC_000001.11:209623068:G:A,NC_000001.11:209623068:G:T
Gene:: LAMB3 (Varview), MIR4260 (Varview)
Functional Consequence:: 500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209623069G>A, NC_000001.11:g.209623069G>T, NC_000001.10:g.209796414G>A, NC_000001.10:g.209796414G>T, NG_007116.1:g.34407C>T, NG_007116.1:g.34407C>A, NM_000228.3:c.2469C>T, NM_000228.3:c.2469C>A, NM_000228.2:c.2469C>T, NM_000228.2:c.2469C>A, NM_001017402.2:c.2469C>T, NM_001017402.2:c.2469C>A, NM_001017402.1:c.2469C>T, NM_001017402.1:c.2469C>A, NM_001127641.1:c.2469C>T, NM_001127641.1:c.2469C>A, XM_005273124.5:c.2469C>T, XM_005273124.5:c.2469C>A, XM_005273124.4:c.2469C>T, XM_005273124.4:c.2469C>A, XM_005273124.3:c.2469C>T, XM_005273124.3:c.2469C>A, XM_005273124.2:c.2469C>T, XM_005273124.2:c.2469C>A, XM_005273124.1:c.2469C>T, XM_005273124.1:c.2469C>A, XM_017001272.3:c.2277C>T, XM_017001272.3:c.2277C>A, XM_017001272.2:c.2277C>T, XM_017001272.2:c.2277C>A, XM_017001272.1:c.2277C>T, XM_017001272.1:c.2277C>A, XM_047420351.1:c.2277C>T, XM_047420351.1:c.2277C>A

Select item 14842819597.

rs1484281959 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:209623890 (GRCh38)
1:209797235 (GRCh37)
Canonical SPDI:: NC_000001.11:209623889:T:C
Gene:: LAMB3 (Varview), MIR4260 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.209623890T>C, NC_000001.10:g.209797235T>C, NG_007116.1:g.33586A>G, NM_000228.3:c.2087A>G, NM_000228.2:c.2087A>G, NM_001017402.2:c.2087A>G, NM_001017402.1:c.2087A>G, NM_001127641.1:c.2087A>G, XM_005273124.5:c.2087A>G, XM_005273124.4:c.2087A>G, XM_005273124.3:c.2087A>G, XM_005273124.2:c.2087A>G, XM_005273124.1:c.2087A>G, XM_017001272.3:c.1895A>G, XM_017001272.2:c.1895A>G, XM_017001272.1:c.1895A>G, XM_047420351.1:c.1895A>G, NP_000219.2:p.Tyr696Cys, NP_001017402.1:p.Tyr696Cys, NP_001121113.1:p.Tyr696Cys, XP_005273181.1:p.Tyr696Cys, XP_016856761.1:p.Tyr632Cys, XP_047276307.1:p.Tyr632Cys

Select item 14831831758.

rs1483183175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:209632750 (GRCh38)
1:209806095 (GRCh37)
Canonical SPDI:: NC_000001.11:209632749:C:G
Gene:: LAMB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.209632750C>G, NC_000001.10:g.209806095C>G, NG_007116.1:g.24726G>C, NM_000228.3:c.655G>C, NM_000228.2:c.655G>C, NM_001017402.2:c.655G>C, NM_001017402.1:c.655G>C, NM_001127641.1:c.655G>C, XM_005273124.5:c.655G>C, XM_005273124.4:c.655G>C, XM_005273124.3:c.655G>C, XM_005273124.2:c.655G>C, XM_005273124.1:c.655G>C, XM_017001272.3:c.463G>C, XM_017001272.2:c.463G>C, XM_017001272.1:c.463G>C, XM_047420351.1:c.463G>C, NP_000219.2:p.Val219Leu, NP_001017402.1:p.Val219Leu, NP_001121113.1:p.Val219Leu, XP_005273181.1:p.Val219Leu, XP_016856761.1:p.Val155Leu, XP_047276307.1:p.Val155Leu

Select item 14807857139.

rs1480785713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:209617454 (GRCh38)
1:209790799 (GRCh37)
Canonical SPDI:: NC_000001.11:209617453:G:T
Gene:: LAMB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209617454G>T, NC_000001.10:g.209790799G>T, NG_007116.1:g.40022C>A, NM_000228.3:c.3184C>A, NM_000228.2:c.3184C>A, NM_001017402.2:c.3184C>A, NM_001017402.1:c.3184C>A, NM_001127641.1:c.3184C>A, XM_005273124.5:c.3184C>A, XM_005273124.4:c.3184C>A, XM_005273124.3:c.3184C>A, XM_005273124.2:c.3184C>A, XM_005273124.1:c.3184C>A, XM_017001272.3:c.2992C>A, XM_017001272.2:c.2992C>A, XM_017001272.1:c.2992C>A, XM_047420351.1:c.2992C>A, NP_000219.2:p.Gln1062Lys, NP_001017402.1:p.Gln1062Lys, NP_001121113.1:p.Gln1062Lys, XP_005273181.1:p.Gln1062Lys, XP_016856761.1:p.Gln998Lys, XP_047276307.1:p.Gln998Lys

Select item 148048209610.

rs1480482096 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:209618562 (GRCh38)
1:209791907 (GRCh37)
Canonical SPDI:: NC_000001.11:209618561:A:G
Gene:: LAMB3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.209618562A>G, NC_000001.10:g.209791907A>G, NG_007116.1:g.38914T>C, NM_000228.3:c.2799T>C, NM_000228.2:c.2799T>C, NM_001017402.2:c.2799T>C, NM_001017402.1:c.2799T>C, NM_001127641.1:c.2799T>C, XM_005273124.5:c.2799T>C, XM_005273124.4:c.2799T>C, XM_005273124.3:c.2799T>C, XM_005273124.2:c.2799T>C, XM_005273124.1:c.2799T>C, XM_017001272.3:c.2607T>C, XM_017001272.2:c.2607T>C, XM_017001272.1:c.2607T>C, XM_047420351.1:c.2607T>C

Select item 147861692611.

rs1478616926 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:209618658 (GRCh38)
1:209792003 (GRCh37)
Canonical SPDI:: NC_000001.11:209618657:G:A,NC_000001.11:209618657:G:T
Gene:: LAMB3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000032/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.209618658G>A, NC_000001.11:g.209618658G>T, NC_000001.10:g.209792003G>A, NC_000001.10:g.209792003G>T, NG_007116.1:g.38818C>T, NG_007116.1:g.38818C>A, NM_000228.3:c.2703C>T, NM_000228.3:c.2703C>A, NM_000228.2:c.2703C>T, NM_000228.2:c.2703C>A, NM_001017402.2:c.2703C>T, NM_001017402.2:c.2703C>A, NM_001017402.1:c.2703C>T, NM_001017402.1:c.2703C>A, NM_001127641.1:c.2703C>T, NM_001127641.1:c.2703C>A, XM_005273124.5:c.2703C>T, XM_005273124.5:c.2703C>A, XM_005273124.4:c.2703C>T, XM_005273124.4:c.2703C>A, XM_005273124.3:c.2703C>T, XM_005273124.3:c.2703C>A, XM_005273124.2:c.2703C>T, XM_005273124.2:c.2703C>A, XM_005273124.1:c.2703C>T, XM_005273124.1:c.2703C>A, XM_017001272.3:c.2511C>T, XM_017001272.3:c.2511C>A, XM_017001272.2:c.2511C>T, XM_017001272.2:c.2511C>A, XM_017001272.1:c.2511C>T, XM_017001272.1:c.2511C>A, XM_047420351.1:c.2511C>T, XM_047420351.1:c.2511C>A, NP_000219.2:p.Asp901Glu, NP_001017402.1:p.Asp901Glu, NP_001121113.1:p.Asp901Glu, XP_005273181.1:p.Asp901Glu, XP_016856761.1:p.Asp837Glu, XP_047276307.1:p.Asp837Glu

Select item 147856081912.

rs1478560819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:209623067 (GRCh38)
1:209796412 (GRCh37)
Canonical SPDI:: NC_000001.11:209623066:C:G
Gene:: LAMB3 (Varview), MIR4260 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.209623067C>G, NC_000001.10:g.209796412C>G, NG_007116.1:g.34409G>C, NM_000228.3:c.2471G>C, NM_000228.2:c.2471G>C, NM_001017402.2:c.2471G>C, NM_001017402.1:c.2471G>C, NM_001127641.1:c.2471G>C, XM_005273124.5:c.2471G>C, XM_005273124.4:c.2471G>C, XM_005273124.3:c.2471G>C, XM_005273124.2:c.2471G>C, XM_005273124.1:c.2471G>C, XM_017001272.3:c.2279G>C, XM_017001272.2:c.2279G>C, XM_017001272.1:c.2279G>C, XM_047420351.1:c.2279G>C, NP_000219.2:p.Arg824Thr, NP_001017402.1:p.Arg824Thr, NP_001121113.1:p.Arg824Thr, XP_005273181.1:p.Arg824Thr, XP_016856761.1:p.Arg760Thr, XP_047276307.1:p.Arg760Thr

Select item 147785032913.

rs1477850329 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:209622622 (GRCh38)
1:209795967 (GRCh37)
Canonical SPDI:: NC_000001.11:209622621:GT:
Gene:: LAMB3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.209622622_209622623del, NC_000001.10:g.209795967_209795968del, NG_007116.1:g.34853_34854del, NM_000228.3:c.2614_2615del, NM_000228.2:c.2614_2615del, NM_001017402.2:c.2614_2615del, NM_001017402.1:c.2614_2615del, NM_001127641.1:c.2614_2615del, XM_005273124.5:c.2614_2615del, XM_005273124.4:c.2614_2615del, XM_005273124.3:c.2614_2615del, XM_005273124.2:c.2614_2615del, XM_005273124.1:c.2614_2615del, XM_017001272.3:c.2422_2423del, XM_017001272.2:c.2422_2423del, XM_017001272.1:c.2422_2423del, XM_047420351.1:c.2422_2423del, NP_000219.2:p.Thr872fs, NP_001017402.1:p.Thr872fs, NP_001121113.1:p.Thr872fs, XP_005273181.1:p.Thr872fs, XP_016856761.1:p.Thr808fs, XP_047276307.1:p.Thr808fs

Select item 147770467414.

rs1477704674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:209623085 (GRCh38)
1:209796430 (GRCh37)
Canonical SPDI:: NC_000001.11:209623084:C:A,NC_000001.11:209623084:C:T
Gene:: LAMB3 (Varview), MIR4260 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209623085C>A, NC_000001.11:g.209623085C>T, NC_000001.10:g.209796430C>A, NC_000001.10:g.209796430C>T, NG_007116.1:g.34391G>T, NG_007116.1:g.34391G>A, NM_000228.3:c.2453G>T, NM_000228.3:c.2453G>A, NM_000228.2:c.2453G>T, NM_000228.2:c.2453G>A, NM_001017402.2:c.2453G>T, NM_001017402.2:c.2453G>A, NM_001017402.1:c.2453G>T, NM_001017402.1:c.2453G>A, NM_001127641.1:c.2453G>T, NM_001127641.1:c.2453G>A, XM_005273124.5:c.2453G>T, XM_005273124.5:c.2453G>A, XM_005273124.4:c.2453G>T, XM_005273124.4:c.2453G>A, XM_005273124.3:c.2453G>T, XM_005273124.3:c.2453G>A, XM_005273124.2:c.2453G>T, XM_005273124.2:c.2453G>A, XM_005273124.1:c.2453G>T, XM_005273124.1:c.2453G>A, XM_017001272.3:c.2261G>T, XM_017001272.3:c.2261G>A, XM_017001272.2:c.2261G>T, XM_017001272.2:c.2261G>A, XM_017001272.1:c.2261G>T, XM_017001272.1:c.2261G>A, XM_047420351.1:c.2261G>T, XM_047420351.1:c.2261G>A, NP_000219.2:p.Cys818Phe, NP_000219.2:p.Cys818Tyr, NP_001017402.1:p.Cys818Phe, NP_001017402.1:p.Cys818Tyr, NP_001121113.1:p.Cys818Phe, NP_001121113.1:p.Cys818Tyr, XP_005273181.1:p.Cys818Phe, XP_005273181.1:p.Cys818Tyr, XP_016856761.1:p.Cys754Phe, XP_016856761.1:p.Cys754Tyr, XP_047276307.1:p.Cys754Phe, XP_047276307.1:p.Cys754Tyr

Select item 147640466215.

rs1476404662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:209625988 (GRCh38)
1:209799333 (GRCh37)
Canonical SPDI:: NC_000001.11:209625987:A:G
Gene:: LAMB3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.209625988A>G, NC_000001.10:g.209799333A>G, NG_007116.1:g.31488T>C, NM_000228.3:c.1636T>C, NM_000228.2:c.1636T>C, NM_001017402.2:c.1636T>C, NM_001017402.1:c.1636T>C, NM_001127641.1:c.1636T>C, XM_005273124.5:c.1636T>C, XM_005273124.4:c.1636T>C, XM_005273124.3:c.1636T>C, XM_005273124.2:c.1636T>C, XM_005273124.1:c.1636T>C, XM_017001272.3:c.1444T>C, XM_017001272.2:c.1444T>C, XM_017001272.1:c.1444T>C, XM_047420351.1:c.1444T>C, NP_000219.2:p.Cys546Arg, NP_001017402.1:p.Cys546Arg, NP_001121113.1:p.Cys546Arg, XP_005273181.1:p.Cys546Arg, XP_016856761.1:p.Cys482Arg, XP_047276307.1:p.Cys482Arg

Select item 147625781516.

rs1476257815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:209627527 (GRCh38)
1:209800872 (GRCh37)
Canonical SPDI:: NC_000001.11:209627526:C:A,NC_000001.11:209627526:C:G,NC_000001.11:209627526:C:T
Gene:: LAMB3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.209627527C>A, NC_000001.11:g.209627527C>G, NC_000001.11:g.209627527C>T, NC_000001.10:g.209800872C>A, NC_000001.10:g.209800872C>G, NC_000001.10:g.209800872C>T, NG_007116.1:g.29949G>T, NG_007116.1:g.29949G>C, NG_007116.1:g.29949G>A, NM_000228.3:c.1341G>T, NM_000228.3:c.1341G>C, NM_000228.3:c.1341G>A, NM_000228.2:c.1341G>T, NM_000228.2:c.1341G>C, NM_000228.2:c.1341G>A, NM_001017402.2:c.1341G>T, NM_001017402.2:c.1341G>C, NM_001017402.2:c.1341G>A, NM_001017402.1:c.1341G>T, NM_001017402.1:c.1341G>C, NM_001017402.1:c.1341G>A, NM_001127641.1:c.1341G>T, NM_001127641.1:c.1341G>C, NM_001127641.1:c.1341G>A, XM_005273124.5:c.1341G>T, XM_005273124.5:c.1341G>C, XM_005273124.5:c.1341G>A, XM_005273124.4:c.1341G>T, XM_005273124.4:c.1341G>C, XM_005273124.4:c.1341G>A, XM_005273124.3:c.1341G>T, XM_005273124.3:c.1341G>C, XM_005273124.3:c.1341G>A, XM_005273124.2:c.1341G>T, XM_005273124.2:c.1341G>C, XM_005273124.2:c.1341G>A, XM_005273124.1:c.1341G>T, XM_005273124.1:c.1341G>C, XM_005273124.1:c.1341G>A, XM_017001272.3:c.1149G>T, XM_017001272.3:c.1149G>C, XM_017001272.3:c.1149G>A, XM_017001272.2:c.1149G>T, XM_017001272.2:c.1149G>C, XM_017001272.2:c.1149G>A, XM_017001272.1:c.1149G>T, XM_017001272.1:c.1149G>C, XM_017001272.1:c.1149G>A, XM_047420351.1:c.1149G>T, XM_047420351.1:c.1149G>C, XM_047420351.1:c.1149G>A, NP_000219.2:p.Glu447Asp, NP_000219.2:p.Glu447Asp, NP_001017402.1:p.Glu447Asp, NP_001017402.1:p.Glu447Asp, NP_001121113.1:p.Glu447Asp, NP_001121113.1:p.Glu447Asp, XP_005273181.1:p.Glu447Asp, XP_005273181.1:p.Glu447Asp, XP_016856761.1:p.Glu383Asp, XP_016856761.1:p.Glu383Asp, XP_047276307.1:p.Glu383Asp, XP_047276307.1:p.Glu383Asp

Select item 147448388117.

rs1474483881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:209632689 (GRCh38)
1:209806034 (GRCh37)
Canonical SPDI:: NC_000001.11:209632688:T:C
Gene:: LAMB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.209632689T>C, NC_000001.10:g.209806034T>C, NG_007116.1:g.24787A>G, NM_000228.3:c.716A>G, NM_000228.2:c.716A>G, NM_001017402.2:c.716A>G, NM_001017402.1:c.716A>G, NM_001127641.1:c.716A>G, XM_005273124.5:c.716A>G, XM_005273124.4:c.716A>G, XM_005273124.3:c.716A>G, XM_005273124.2:c.716A>G, XM_005273124.1:c.716A>G, XM_017001272.3:c.524A>G, XM_017001272.2:c.524A>G, XM_017001272.1:c.524A>G, XM_047420351.1:c.524A>G, NP_000219.2:p.Tyr239Cys, NP_001017402.1:p.Tyr239Cys, NP_001121113.1:p.Tyr239Cys, XP_005273181.1:p.Tyr239Cys, XP_016856761.1:p.Tyr175Cys, XP_047276307.1:p.Tyr175Cys

Select item 147344033718.

rs1473440337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:209630672 (GRCh38)
1:209804017 (GRCh37)
Canonical SPDI:: NC_000001.11:209630671:A:C
Gene:: LAMB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209630672A>C, NC_000001.10:g.209804017A>C, NG_007116.1:g.26804T>G, NM_000228.3:c.886T>G, NM_000228.2:c.886T>G, NM_001017402.2:c.886T>G, NM_001017402.1:c.886T>G, NM_001127641.1:c.886T>G, XM_005273124.5:c.886T>G, XM_005273124.4:c.886T>G, XM_005273124.3:c.886T>G, XM_005273124.2:c.886T>G, XM_005273124.1:c.886T>G, XM_017001272.3:c.694T>G, XM_017001272.2:c.694T>G, XM_017001272.1:c.694T>G, XM_047420351.1:c.694T>G, NP_000219.2:p.Phe296Val, NP_001017402.1:p.Phe296Val, NP_001121113.1:p.Phe296Val, XP_005273181.1:p.Phe296Val, XP_016856761.1:p.Phe232Val, XP_047276307.1:p.Phe232Val

Select item 147172567519.

rs1471725675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:209630708 (GRCh38)
1:209804053 (GRCh37)
Canonical SPDI:: NC_000001.11:209630707:T:G
Gene:: LAMB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.209630708T>G, NC_000001.10:g.209804053T>G, NG_007116.1:g.26768A>C, NM_000228.3:c.850A>C, NM_000228.2:c.850A>C, NM_001017402.2:c.850A>C, NM_001017402.1:c.850A>C, NM_001127641.1:c.850A>C, XM_005273124.5:c.850A>C, XM_005273124.4:c.850A>C, XM_005273124.3:c.850A>C, XM_005273124.2:c.850A>C, XM_005273124.1:c.850A>C, XM_017001272.3:c.658A>C, XM_017001272.2:c.658A>C, XM_017001272.1:c.658A>C, XM_047420351.1:c.658A>C, NP_000219.2:p.Asn284His, NP_001017402.1:p.Asn284His, NP_001121113.1:p.Asn284His, XP_005273181.1:p.Asn284His, XP_016856761.1:p.Asn220His, XP_047276307.1:p.Asn220His

Select item 147150381520.

rs1471503815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:209626972 (GRCh38)
1:209800317 (GRCh37)
Canonical SPDI:: NC_000001.11:209626971:C:T
Gene:: LAMB3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.209626972C>T, NC_000001.10:g.209800317C>T, NG_007116.1:g.30504G>A, NM_000228.3:c.1492G>A, NM_000228.2:c.1492G>A, NM_001017402.2:c.1492G>A, NM_001017402.1:c.1492G>A, NM_001127641.1:c.1492G>A, XM_005273124.5:c.1492G>A, XM_005273124.4:c.1492G>A, XM_005273124.3:c.1492G>A, XM_005273124.2:c.1492G>A, XM_005273124.1:c.1492G>A, XM_017001272.3:c.1300G>A, XM_017001272.2:c.1300G>A, XM_017001272.1:c.1300G>A, XM_047420351.1:c.1300G>A, NP_000219.2:p.Gly498Arg, NP_001017402.1:p.Gly498Arg, NP_001121113.1:p.Gly498Arg, XP_005273181.1:p.Gly498Arg, XP_016856761.1:p.Gly434Arg, XP_047276307.1:p.Gly434Arg

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