SNP Links for Protein (Select 109826564) - SNP

Links from Protein

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Select item 14901366111.

rs1490136611 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 17:31227232 (GRCh38)
17:29554250 (GRCh37)
Canonical SPDI:: NC_000017.11:31227231:C:
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31227232del, NC_000017.10:g.29554250del, NG_009018.1:g.137256del, NM_001042492.3:c.2266del, NM_001042492.2:c.2266del, NM_000267.3:c.2266del, NW_025791803.1:g.306406del, NP_001035957.1:p.Gln756fs, NP_000258.1:p.Gln756fs

Select item 14898181042.

rs1489818104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:31235724 (GRCh38)
17:29562742 (GRCh37)
Canonical SPDI:: NC_000017.11:31235723:C:G,NC_000017.11:31235723:C:T
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.31235724C>G, NC_000017.11:g.31235724C>T, NC_000017.10:g.29562742C>G, NC_000017.10:g.29562742C>T, NG_009018.1:g.145748C>G, NG_009018.1:g.145748C>T, NM_001042492.3:c.3822C>G, NM_001042492.3:c.3822C>T, NM_001042492.2:c.3822C>G, NM_001042492.2:c.3822C>T, NM_000267.3:c.3822C>G, NM_000267.3:c.3822C>T, NW_025791803.1:g.314898C>G, NW_025791803.1:g.314898C>T

Select item 14894561783.

rs1489456178 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 17:31360515 (GRCh38)
17:29687533 (GRCh37)
Canonical SPDI:: NC_000017.11:31360514:TT:T
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.31360516del, NC_000017.10:g.29687534del, NG_009018.1:g.270540del, NM_001042492.3:c.8190del, NM_001042492.2:c.8190del, NM_000267.3:c.8127del, NW_025791803.1:g.439384del, NP_001035957.1:p.Ile2731fs, NP_000258.1:p.Ile2710fs

Select item 14890014114.

rs1489001411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:31219039 (GRCh38)
17:29546057 (GRCh37)
Canonical SPDI:: NC_000017.11:31219038:G:C,NC_000017.11:31219038:G:T
Gene:: NF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31219039G>C, NC_000017.11:g.31219039G>T, NC_000017.10:g.29546057G>C, NC_000017.10:g.29546057G>T, NG_009018.1:g.129063G>C, NG_009018.1:g.129063G>T, NM_001042492.3:c.1562G>C, NM_001042492.3:c.1562G>T, NM_001042492.2:c.1562G>C, NM_001042492.2:c.1562G>T, NM_000267.3:c.1562G>C, NM_000267.3:c.1562G>T, NM_001128147.3:c.1562G>C, NM_001128147.3:c.1562G>T, NM_001128147.2:c.1562G>C, NM_001128147.2:c.1562G>T, NW_025791803.1:g.298213G>C, NW_025791803.1:g.298213G>T, NP_001035957.1:p.Ser521Thr, NP_001035957.1:p.Ser521Ile, NP_000258.1:p.Ser521Thr, NP_000258.1:p.Ser521Ile, NP_001121619.1:p.Ser521Thr, NP_001121619.1:p.Ser521Ile

Select item 14876563805.

rs1487656380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:31357337 (GRCh38)
17:29684355 (GRCh37)
Canonical SPDI:: NC_000017.11:31357336:C:G,NC_000017.11:31357336:C:T
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.31357337C>G, NC_000017.11:g.31357337C>T, NC_000017.10:g.29684355C>G, NC_000017.10:g.29684355C>T, NG_009018.1:g.267361C>G, NG_009018.1:g.267361C>T, NM_001042492.3:c.7938C>G, NM_001042492.3:c.7938C>T, NM_001042492.2:c.7938C>G, NM_001042492.2:c.7938C>T, NM_000267.3:c.7875C>G, NM_000267.3:c.7875C>T, NW_025791803.1:g.436205C>G, NW_025791803.1:g.436205C>T

Select item 14871991306.

rs1487199130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:31336841 (GRCh38)
17:29663859 (GRCh37)
Canonical SPDI:: NC_000017.11:31336840:T:G
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.31336841T>G, NC_000017.10:g.29663859T>G, NG_009018.1:g.246865T>G, NM_001042492.3:c.6354T>G, NM_001042492.2:c.6354T>G, NM_000267.3:c.6291T>G, NW_025791803.1:g.415698T>G

Select item 14870255917.

rs1487025591 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 17:31357342 (GRCh38)
17:29684360 (GRCh37)
Canonical SPDI:: NC_000017.11:31357341:T:A,NC_000017.11:31357341:T:C,NC_000017.11:31357341:T:G
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.31357342T>A, NC_000017.11:g.31357342T>C, NC_000017.11:g.31357342T>G, NC_000017.10:g.29684360T>A, NC_000017.10:g.29684360T>C, NC_000017.10:g.29684360T>G, NG_009018.1:g.267366T>A, NG_009018.1:g.267366T>C, NG_009018.1:g.267366T>G, NM_001042492.3:c.7943T>A, NM_001042492.3:c.7943T>C, NM_001042492.3:c.7943T>G, NM_001042492.2:c.7943T>A, NM_001042492.2:c.7943T>C, NM_001042492.2:c.7943T>G, NM_000267.3:c.7880T>A, NM_000267.3:c.7880T>C, NM_000267.3:c.7880T>G, NW_025791803.1:g.436210T>A, NW_025791803.1:g.436210T>C, NW_025791803.1:g.436210T>G, NP_001035957.1:p.Val2648Asp, NP_001035957.1:p.Val2648Ala, NP_001035957.1:p.Val2648Gly, NP_000258.1:p.Val2627Asp, NP_000258.1:p.Val2627Ala, NP_000258.1:p.Val2627Gly

Select item 14865372258.

rs1486537225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:31235648 (GRCh38)
17:29562666 (GRCh37)
Canonical SPDI:: NC_000017.11:31235647:C:G,NC_000017.11:31235647:C:T
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.31235648C>G, NC_000017.11:g.31235648C>T, NC_000017.10:g.29562666C>G, NC_000017.10:g.29562666C>T, NG_009018.1:g.145672C>G, NG_009018.1:g.145672C>T, NM_001042492.3:c.3746C>G, NM_001042492.3:c.3746C>T, NM_001042492.2:c.3746C>G, NM_001042492.2:c.3746C>T, NM_000267.3:c.3746C>G, NM_000267.3:c.3746C>T, NW_025791803.1:g.314822C>G, NW_025791803.1:g.314822C>T, NP_001035957.1:p.Ser1249Cys, NP_001035957.1:p.Ser1249Phe, NP_000258.1:p.Ser1249Cys, NP_000258.1:p.Ser1249Phe

Select item 14857564629.

rs1485756462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:31337856 (GRCh38)
17:29664874 (GRCh37)
Canonical SPDI:: NC_000017.11:31337855:A:G,NC_000017.11:31337855:A:T
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: G=0.0022/4 (Korea1K)
HGVS:: NC_000017.11:g.31337856A>G, NC_000017.11:g.31337856A>T, NC_000017.10:g.29664874A>G, NC_000017.10:g.29664874A>T, NG_009018.1:g.247880A>G, NG_009018.1:g.247880A>T, NM_001042492.3:c.6680A>G, NM_001042492.3:c.6680A>T, NM_001042492.2:c.6680A>G, NM_001042492.2:c.6680A>T, NM_000267.3:c.6617A>G, NM_000267.3:c.6617A>T, NW_025791803.1:g.416713A>G, NW_025791803.1:g.416713A>T, NP_001035957.1:p.Asp2227Gly, NP_001035957.1:p.Asp2227Val, NP_000258.1:p.Asp2206Gly, NP_000258.1:p.Asp2206Val

Select item 148427797910.

rs1484277979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 17:31229128 (GRCh38)
17:29556146 (GRCh37)
Canonical SPDI:: NC_000017.11:31229127:T:A,NC_000017.11:31229127:T:C,NC_000017.11:31229127:T:G
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.31229128T>A, NC_000017.11:g.31229128T>C, NC_000017.11:g.31229128T>G, NC_000017.10:g.29556146T>A, NC_000017.10:g.29556146T>C, NC_000017.10:g.29556146T>G, NG_009018.1:g.139152T>A, NG_009018.1:g.139152T>C, NG_009018.1:g.139152T>G, NM_001042492.3:c.2513T>A, NM_001042492.3:c.2513T>C, NM_001042492.3:c.2513T>G, NM_001042492.2:c.2513T>A, NM_001042492.2:c.2513T>C, NM_001042492.2:c.2513T>G, NM_000267.3:c.2513T>A, NM_000267.3:c.2513T>C, NM_000267.3:c.2513T>G, NW_025791803.1:g.308302T>A, NW_025791803.1:g.308302T>C, NW_025791803.1:g.308302T>G, NP_001035957.1:p.Ile838Asn, NP_001035957.1:p.Ile838Thr, NP_001035957.1:p.Ile838Ser, NP_000258.1:p.Ile838Asn, NP_000258.1:p.Ile838Thr, NP_000258.1:p.Ile838Ser

Select item 148417275111.

rs1484172751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:31349248 (GRCh38)
17:29676266 (GRCh37)
Canonical SPDI:: NC_000017.11:31349247:G:A,NC_000017.11:31349247:G:C,NC_000017.11:31349247:G:T
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31349248G>A, NC_000017.11:g.31349248G>C, NC_000017.11:g.31349248G>T, NC_000017.10:g.29676266G>A, NC_000017.10:g.29676266G>C, NC_000017.10:g.29676266G>T, NG_009018.1:g.259272G>A, NG_009018.1:g.259272G>C, NG_009018.1:g.259272G>T, NM_001042492.3:c.7318G>A, NM_001042492.3:c.7318G>C, NM_001042492.3:c.7318G>T, NM_001042492.2:c.7318G>A, NM_001042492.2:c.7318G>C, NM_001042492.2:c.7318G>T, NM_000267.3:c.7255G>A, NM_000267.3:c.7255G>C, NM_000267.3:c.7255G>T, NW_025791803.1:g.428117G>A, NW_025791803.1:g.428117G>C, NW_025791803.1:g.428117G>T, NP_001035957.1:p.Ala2440Thr, NP_001035957.1:p.Ala2440Pro, NP_001035957.1:p.Ala2440Ser, NP_000258.1:p.Ala2419Thr, NP_000258.1:p.Ala2419Pro, NP_000258.1:p.Ala2419Ser

Select item 148354119512.

rs1483541195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:31325998 (GRCh38)
17:29653016 (GRCh37)
Canonical SPDI:: NC_000017.11:31325997:G:A,NC_000017.11:31325997:G:C,NC_000017.11:31325997:G:T
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000062/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.31325998G>A, NC_000017.11:g.31325998G>C, NC_000017.11:g.31325998G>T, NC_000017.10:g.29653016G>A, NC_000017.10:g.29653016G>C, NC_000017.10:g.29653016G>T, NG_009018.1:g.236022G>A, NG_009018.1:g.236022G>C, NG_009018.1:g.236022G>T, NM_001042492.3:c.5014G>A, NM_001042492.3:c.5014G>C, NM_001042492.3:c.5014G>T, NM_001042492.2:c.5014G>A, NM_001042492.2:c.5014G>C, NM_001042492.2:c.5014G>T, NM_000267.3:c.4951G>A, NM_000267.3:c.4951G>C, NM_000267.3:c.4951G>T, NW_025791803.1:g.405145G>A, NW_025791803.1:g.405145G>C, NW_025791803.1:g.405145G>T, NP_001035957.1:p.Asp1672Asn, NP_001035957.1:p.Asp1672His, NP_001035957.1:p.Asp1672Tyr, NP_000258.1:p.Asp1651Asn, NP_000258.1:p.Asp1651His, NP_000258.1:p.Asp1651Tyr

Select item 148348564813.

rs1483485648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:31343023 (GRCh38)
17:29670041 (GRCh37)
Canonical SPDI:: NC_000017.11:31343022:A:T
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.31343023A>T, NC_000017.10:g.29670041A>T, NG_009018.1:g.253047A>T, NM_001042492.3:c.7077A>T, NM_001042492.2:c.7077A>T, NM_000267.3:c.7014A>T, NW_025791803.1:g.421894A>T

Select item 148331140714.

rs1483311407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:31248997 (GRCh38)
17:29576015 (GRCh37)
Canonical SPDI:: NC_000017.11:31248996:G:A,NC_000017.11:31248996:G:C
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.31248997G>A, NC_000017.11:g.31248997G>C, NC_000017.10:g.29576015G>A, NC_000017.10:g.29576015G>C, NG_009018.1:g.159021G>A, NG_009018.1:g.159021G>C, NM_001042492.3:c.3988G>A, NM_001042492.3:c.3988G>C, NM_001042492.2:c.3988G>A, NM_001042492.2:c.3988G>C, NM_000267.3:c.3988G>A, NM_000267.3:c.3988G>C, NW_025791803.1:g.328171G>A, NW_025791803.1:g.328171G>C, NP_001035957.1:p.Glu1330Lys, NP_001035957.1:p.Glu1330Gln, NP_000258.1:p.Glu1330Lys, NP_000258.1:p.Glu1330Gln

Select item 148208566815.

rs1482085668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:31233199 (GRCh38)
17:29560217 (GRCh37)
Canonical SPDI:: NC_000017.11:31233198:C:G,NC_000017.11:31233198:C:T
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.31233199C>G, NC_000017.11:g.31233199C>T, NC_000017.10:g.29560217C>G, NC_000017.10:g.29560217C>T, NG_009018.1:g.143223C>G, NG_009018.1:g.143223C>T, NM_001042492.3:c.3694C>G, NM_001042492.3:c.3694C>T, NM_001042492.2:c.3694C>G, NM_001042492.2:c.3694C>T, NM_000267.3:c.3694C>G, NM_000267.3:c.3694C>T, NW_025791803.1:g.312373C>G, NW_025791803.1:g.312373C>T, NP_001035957.1:p.Pro1232Ala, NP_001035957.1:p.Pro1232Ser, NP_000258.1:p.Pro1232Ala, NP_000258.1:p.Pro1232Ser

Select item 148171233016.

rs1481712330 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:31358973 (GRCh38)
17:29685991 (GRCh37)
Canonical SPDI:: NC_000017.11:31358972:T:C
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31358973T>C, NC_000017.10:g.29685991T>C, NG_009018.1:g.268997T>C, NM_001042492.3:c.8118T>C, NM_001042492.2:c.8118T>C, NM_000267.3:c.8055T>C, NW_025791803.1:g.437841T>C

Select item 148140891817.

rs1481408918 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTT [Show Flanks]
Chromosome:: 17:31334838 (GRCh38)
17:29661857 (GRCh37)
Canonical SPDI:: NC_000017.11:31334838:T:TTTTTT
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000017.11:g.31334839_31334840insTTTTT, NC_000017.10:g.29661857_29661858insTTTTT, NG_009018.1:g.244863_244864insTTTTT, NM_001042492.3:c.5814_5815insTTTTT, NM_001042492.2:c.5814_5815insTTTTT, NM_000267.3:c.5751_5752insTTTTT, NW_025791803.1:g.413609_413610insTTTTT, NP_001035957.1:p.Ile1939fs, NP_000258.1:p.Ile1918fs

Select item 148008281718.

rs1480082817 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:31169982 (GRCh38)
17:29497000 (GRCh37)
Canonical SPDI:: NC_000017.11:31169981:A:G
Gene:: NF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.31169982A>G, NC_000017.10:g.29497000A>G, NG_009018.1:g.80006A>G, NM_001042492.3:c.571A>G, NM_001042492.2:c.571A>G, NM_000267.3:c.571A>G, NM_001128147.3:c.571A>G, NM_001128147.2:c.571A>G, NW_025791803.1:g.249156A>G, NP_001035957.1:p.Lys191Glu, NP_000258.1:p.Lys191Glu, NP_001121619.1:p.Lys191Glu

Select item 147983562919.

rs1479835629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 17:31261831 (GRCh38)
17:29588849 (GRCh37)
Canonical SPDI:: NC_000017.11:31261830:T:A,NC_000017.11:31261830:T:C,NC_000017.11:31261830:T:G
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_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_000017.11:g.31261831T>A, NC_000017.11:g.31261831T>C, NC_000017.11:g.31261831T>G, NC_000017.10:g.29588849T>A, NC_000017.10:g.29588849T>C, NC_000017.10:g.29588849T>G, NG_009018.1:g.171855T>A, NG_009018.1:g.171855T>C, NG_009018.1:g.171855T>G, NM_001042492.3:c.4698T>A, NM_001042492.3:c.4698T>C, NM_001042492.3:c.4698T>G, NM_001042492.2:c.4698T>A, NM_001042492.2:c.4698T>C, NM_001042492.2:c.4698T>G, NM_000267.3:c.4635T>A, NM_000267.3:c.4635T>C, NM_000267.3:c.4635T>G, NW_025791803.1:g.341005T>A, NW_025791803.1:g.341005T>C, NW_025791803.1:g.341005T>G, NP_001035957.1:p.Ser1566Arg, NP_001035957.1:p.Ser1566Arg, NP_000258.1:p.Ser1545Arg, NP_000258.1:p.Ser1545Arg

Select item 147966968620.

rs1479669686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:31226565 (GRCh38)
17:29553583 (GRCh37)
Canonical SPDI:: NC_000017.11:31226564:G:A,NC_000017.11:31226564:G:C,NC_000017.11:31226564:G:T
Gene:: NF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.31226565G>A, NC_000017.11:g.31226565G>C, NC_000017.11:g.31226565G>T, NC_000017.10:g.29553583G>A, NC_000017.10:g.29553583G>C, NC_000017.10:g.29553583G>T, NG_009018.1:g.136589G>A, NG_009018.1:g.136589G>C, NG_009018.1:g.136589G>T, NM_001042492.3:c.2132G>A, NM_001042492.3:c.2132G>C, NM_001042492.3:c.2132G>T, NM_001042492.2:c.2132G>A, NM_001042492.2:c.2132G>C, NM_001042492.2:c.2132G>T, NM_000267.3:c.2132G>A, NM_000267.3:c.2132G>C, NM_000267.3:c.2132G>T, NW_025791803.1:g.305739G>A, NW_025791803.1:g.305739G>C, NW_025791803.1:g.305739G>T, NP_001035957.1:p.Arg711His, NP_001035957.1:p.Arg711Pro, NP_001035957.1:p.Arg711Leu, NP_000258.1:p.Arg711His, NP_000258.1:p.Arg711Pro, NP_000258.1:p.Arg711Leu

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