SNP Links for Protein (Select 767953020) - SNP

Select item 14895304901.

rs1489530490 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:89978282 (GRCh38)
8:90990510 (GRCh37)
Canonical SPDI:: NC_000008.11:89978281:T:C
Gene:: NBN (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.89978282T>C, NC_000008.10:g.90990510T>C, NG_008860.1:g.11390A>G, NM_002485.5:c.522A>G, NM_002485.4:c.522A>G, NM_001024688.3:c.276A>G, NM_001024688.2:c.276A>G, NM_001024688.1:c.276A>G, XM_011517045.2:c.276A>G, XM_011517045.1:c.276A>G, XM_024447163.2:c.276A>G, XM_024447163.1:c.276A>G, XM_011517046.2:c.522A>G, XM_011517046.1:c.522A>G, XM_047421795.1:c.-358A>G, XM_047421796.1:c.522A>G

Select item 14841200472.

rs1484120047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:89980838 (GRCh38)
8:90993066 (GRCh37)
Canonical SPDI:: NC_000008.11:89980837:T:A
Gene:: NBN (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.89980838T>A, NC_000008.10:g.90993066T>A, NG_008860.1:g.8834A>T, NM_002485.5:c.376A>T, NM_002485.4:c.376A>T, NM_001024688.3:c.130A>T, NM_001024688.2:c.130A>T, NM_001024688.1:c.130A>T, XM_011517045.2:c.130A>T, XM_011517045.1:c.130A>T, XM_024447163.2:c.130A>T, XM_024447163.1:c.130A>T, XM_011517046.2:c.376A>T, XM_011517046.1:c.376A>T, XM_047421796.1:c.376A>T, NP_002476.2:p.Thr126Ser, NP_001019859.1:p.Thr44Ser, XP_011515347.1:p.Thr44Ser, XP_024302931.1:p.Thr44Ser, XP_011515348.1:p.Thr126Ser, XP_047277752.1:p.Thr126Ser

Select item 14820132663.

rs1482013266 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:89964414 (GRCh38)
8:90976642 (GRCh37)
Canonical SPDI:: NC_000008.11:89964413:A:G
Gene:: NBN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.89964414A>G, NC_000008.10:g.90976642A>G, NG_008860.1:g.25258T>C, NM_002485.5:c.990T>C, NM_002485.4:c.990T>C, NM_001024688.3:c.744T>C, NM_001024688.2:c.744T>C, NM_001024688.1:c.744T>C, XM_011517045.2:c.744T>C, XM_011517045.1:c.744T>C, XM_024447163.2:c.744T>C, XM_024447163.1:c.744T>C, XM_011517046.2:c.990T>C, XM_011517046.1:c.990T>C, XM_047421795.1:c.111T>C, XM_047421796.1:c.990T>C

Select item 14732532474.

rs1473253247 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:89955460 (GRCh38)
8:90967688 (GRCh37)
Canonical SPDI:: NC_000008.11:89955459:C:A,NC_000008.11:89955459:C:T
Gene:: NBN (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.89955460C>A, NC_000008.11:g.89955460C>T, NC_000008.10:g.90967688C>A, NC_000008.10:g.90967688C>T, NG_008860.1:g.34212G>T, NG_008860.1:g.34212G>A, NM_002485.5:c.1220G>T, NM_002485.5:c.1220G>A, NM_002485.4:c.1220G>T, NM_002485.4:c.1220G>A, NM_001024688.3:c.974G>T, NM_001024688.3:c.974G>A, NM_001024688.2:c.974G>T, NM_001024688.2:c.974G>A, NM_001024688.1:c.974G>T, NM_001024688.1:c.974G>A, XM_011517045.2:c.974G>T, XM_011517045.2:c.974G>A, XM_011517045.1:c.974G>T, XM_011517045.1:c.974G>A, XM_024447163.2:c.974G>T, XM_024447163.2:c.974G>A, XM_024447163.1:c.974G>T, XM_024447163.1:c.974G>A, XM_011517046.2:c.1220G>T, XM_011517046.2:c.1220G>A, XM_011517046.1:c.1220G>T, XM_011517046.1:c.1220G>A, XM_047421795.1:c.341G>T, XM_047421795.1:c.341G>A, NP_002476.2:p.Cys407Phe, NP_002476.2:p.Cys407Tyr, NP_001019859.1:p.Cys325Phe, NP_001019859.1:p.Cys325Tyr, XP_011515347.1:p.Cys325Phe, XP_011515347.1:p.Cys325Tyr, XP_024302931.1:p.Cys325Phe, XP_024302931.1:p.Cys325Tyr, XP_011515348.1:p.Cys407Phe, XP_011515348.1:p.Cys407Tyr, XP_047277751.1:p.Cys114Phe, XP_047277751.1:p.Cys114Tyr

Select item 14691360965.

rs1469136096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:89980822 (GRCh38)
8:90993050 (GRCh37)
Canonical SPDI:: NC_000008.11:89980821:G:A,NC_000008.11:89980821:G:C
Gene:: NBN (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.89980822G>A, NC_000008.11:g.89980822G>C, NC_000008.10:g.90993050G>A, NC_000008.10:g.90993050G>C, NG_008860.1:g.8850C>T, NG_008860.1:g.8850C>G, NM_002485.5:c.392C>T, NM_002485.5:c.392C>G, NM_002485.4:c.392C>T, NM_002485.4:c.392C>G, NM_001024688.3:c.146C>T, NM_001024688.3:c.146C>G, NM_001024688.2:c.146C>T, NM_001024688.2:c.146C>G, NM_001024688.1:c.146C>T, NM_001024688.1:c.146C>G, XM_011517045.2:c.146C>T, XM_011517045.2:c.146C>G, XM_011517045.1:c.146C>T, XM_011517045.1:c.146C>G, XM_024447163.2:c.146C>T, XM_024447163.2:c.146C>G, XM_024447163.1:c.146C>T, XM_024447163.1:c.146C>G, XM_011517046.2:c.392C>T, XM_011517046.2:c.392C>G, XM_011517046.1:c.392C>T, XM_011517046.1:c.392C>G, XM_047421795.1:c.-578C>T, XM_047421795.1:c.-578C>G, XM_047421796.1:c.392C>T, XM_047421796.1:c.392C>G, NP_002476.2:p.Ala131Val, NP_002476.2:p.Ala131Gly, NP_001019859.1:p.Ala49Val, NP_001019859.1:p.Ala49Gly, XP_011515347.1:p.Ala49Val, XP_011515347.1:p.Ala49Gly, XP_024302931.1:p.Ala49Val, XP_024302931.1:p.Ala49Gly, XP_011515348.1:p.Ala131Val, XP_011515348.1:p.Ala131Gly, XP_047277752.1:p.Ala131Val, XP_047277752.1:p.Ala131Gly

Select item 14661479256.

rs1466147925 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 8:89981477 (GRCh38)
8:90993705 (GRCh37)
Canonical SPDI:: NC_000008.11:89981476:TT:T
Gene:: NBN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.89981478del, NC_000008.10:g.90993706del, NG_008860.1:g.8195del, NM_002485.5:c.218del, NM_002485.4:c.218del, NM_001024688.3:c.-29del, NM_001024688.2:c.-29del, NM_001024688.1:c.-29del, XM_011517045.2:c.-29del, XM_011517045.1:c.-29del, XM_024447163.2:c.-29del, XM_024447163.1:c.-29del, XM_011517046.2:c.218del, XM_011517046.1:c.218del, XM_047421796.1:c.218del, NP_002476.2:p.Lys73fs, XP_011515348.1:p.Lys73fs, XP_047277752.1:p.Lys73fs

Select item 14632538307.

rs1463253830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:89978316 (GRCh38)
8:90990544 (GRCh37)
Canonical SPDI:: NC_000008.11:89978315:C:T
Gene:: NBN (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.89978316C>T, NC_000008.10:g.90990544C>T, NG_008860.1:g.11356G>A, NM_002485.5:c.488G>A, NM_002485.4:c.488G>A, NM_001024688.3:c.242G>A, NM_001024688.2:c.242G>A, NM_001024688.1:c.242G>A, XM_011517045.2:c.242G>A, XM_011517045.1:c.242G>A, XM_024447163.2:c.242G>A, XM_024447163.1:c.242G>A, XM_011517046.2:c.488G>A, XM_011517046.1:c.488G>A, XM_047421795.1:c.-392G>A, XM_047421796.1:c.488G>A, NP_002476.2:p.Cys163Tyr, NP_001019859.1:p.Cys81Tyr, XP_011515347.1:p.Cys81Tyr, XP_024302931.1:p.Cys81Tyr, XP_011515348.1:p.Cys163Tyr, XP_047277752.1:p.Cys163Tyr

Select item 14602822068.

rs1460282206 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:89981513 (GRCh38)
8:90993741 (GRCh37)
Canonical SPDI:: NC_000008.11:89981512:T:C
Gene:: NBN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.89981513T>C, NC_000008.10:g.90993741T>C, NG_008860.1:g.8159A>G, NM_002485.5:c.182A>G, NM_002485.4:c.182A>G, NM_001024688.3:c.-65A>G, NM_001024688.2:c.-65A>G, NM_001024688.1:c.-65A>G, XM_011517045.2:c.-65A>G, XM_011517045.1:c.-65A>G, XM_024447163.2:c.-65A>G, XM_024447163.1:c.-65A>G, XM_011517046.2:c.182A>G, XM_011517046.1:c.182A>G, XM_047421796.1:c.182A>G, NP_002476.2:p.Asp61Gly, XP_011515348.1:p.Asp61Gly, XP_047277752.1:p.Asp61Gly

Select item 14568271079.

rs1456827107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:89955368 (GRCh38)
8:90967596 (GRCh37)
Canonical SPDI:: NC_000008.11:89955367:T:C
Gene:: NBN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity,uncertain-significance
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.89955368T>C, NC_000008.10:g.90967596T>C, NG_008860.1:g.34304A>G, NM_002485.5:c.1312A>G, NM_002485.4:c.1312A>G, NM_001024688.3:c.1066A>G, NM_001024688.2:c.1066A>G, NM_001024688.1:c.1066A>G, XM_011517045.2:c.1066A>G, XM_011517045.1:c.1066A>G, XM_024447163.2:c.1066A>G, XM_024447163.1:c.1066A>G, XM_011517046.2:c.1312A>G, XM_011517046.1:c.1312A>G, XM_047421795.1:c.433A>G, NP_002476.2:p.Ser438Gly, NP_001019859.1:p.Ser356Gly, XP_011515347.1:p.Ser356Gly, XP_024302931.1:p.Ser356Gly, XP_011515348.1:p.Ser438Gly, XP_047277751.1:p.Ser145Gly

Select item 145018914910.

rs1450189149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:89982747 (GRCh38)
8:90994975 (GRCh37)
Canonical SPDI:: NC_000008.11:89982746:G:A
Gene:: NBN (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.89982747G>A, NC_000008.10:g.90994975G>A, NG_008860.1:g.6925C>T, NM_002485.5:c.146C>T, NM_002485.4:c.146C>T, NM_001024688.3:c.-151C>T, NM_001024688.2:c.-151C>T, NM_001024688.1:c.-151C>T, XM_011517045.2:c.-151C>T, XM_011517045.1:c.-151C>T, XM_024447163.2:c.-101C>T, XM_024447163.1:c.-101C>T, XM_011517046.2:c.146C>T, XM_011517046.1:c.146C>T, XM_047421796.1:c.146C>T, NP_002476.2:p.Thr49Ile, XP_011515348.1:p.Thr49Ile, XP_047277752.1:p.Thr49Ile

Select item 144869663711.

rs1448696637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:89955346 (GRCh38)
8:90967574 (GRCh37)
Canonical SPDI:: NC_000008.11:89955345:C:G
Gene:: NBN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
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_000008.11:g.89955346C>G, NC_000008.10:g.90967574C>G, NG_008860.1:g.34326G>C, NM_002485.5:c.1334G>C, NM_002485.4:c.1334G>C, NM_001024688.3:c.1088G>C, NM_001024688.2:c.1088G>C, NM_001024688.1:c.1088G>C, XM_011517045.2:c.1088G>C, XM_011517045.1:c.1088G>C, XM_024447163.2:c.1088G>C, XM_024447163.1:c.1088G>C, XM_011517046.2:c.1334G>C, XM_011517046.1:c.1334G>C, XM_047421795.1:c.455G>C, NP_002476.2:p.Arg445Thr, NP_001019859.1:p.Arg363Thr, XP_011515347.1:p.Arg363Thr, XP_024302931.1:p.Arg363Thr, XP_011515348.1:p.Arg445Thr, XP_047277751.1:p.Arg152Thr

Select item 144430660712.

rs1444306607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:89955412 (GRCh38)
8:90967640 (GRCh37)
Canonical SPDI:: NC_000008.11:89955411:T:C
Gene:: NBN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance,conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.89955412T>C, NC_000008.10:g.90967640T>C, NG_008860.1:g.34260A>G, NM_002485.5:c.1268A>G, NM_002485.4:c.1268A>G, NM_001024688.3:c.1022A>G, NM_001024688.2:c.1022A>G, NM_001024688.1:c.1022A>G, XM_011517045.2:c.1022A>G, XM_011517045.1:c.1022A>G, XM_024447163.2:c.1022A>G, XM_024447163.1:c.1022A>G, XM_011517046.2:c.1268A>G, XM_011517046.1:c.1268A>G, XM_047421795.1:c.389A>G, NP_002476.2:p.Lys423Arg, NP_001019859.1:p.Lys341Arg, XP_011515347.1:p.Lys341Arg, XP_024302931.1:p.Lys341Arg, XP_011515348.1:p.Lys423Arg, XP_047277751.1:p.Lys130Arg

Select item 143941857313.

rs1439418573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:89970392 (GRCh38)
8:90982620 (GRCh37)
Canonical SPDI:: NC_000008.11:89970391:T:C
Gene:: NBN (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.89970392T>C, NC_000008.10:g.90982620T>C, NG_008860.1:g.19280A>G, NM_002485.5:c.868A>G, NM_002485.4:c.868A>G, NM_001024688.3:c.622A>G, NM_001024688.2:c.622A>G, NM_001024688.1:c.622A>G, XM_011517045.2:c.622A>G, XM_011517045.1:c.622A>G, XM_024447163.2:c.622A>G, XM_024447163.1:c.622A>G, XM_011517046.2:c.868A>G, XM_011517046.1:c.868A>G, XM_047421795.1:c.-12A>G, XM_047421796.1:c.868A>G, NP_002476.2:p.Ile290Val, NP_001019859.1:p.Ile208Val, XP_011515347.1:p.Ile208Val, XP_024302931.1:p.Ile208Val, XP_011515348.1:p.Ile290Val, XP_047277752.1:p.Ile290Val

Select item 143883873514.

rs1438838735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:89981446 (GRCh38)
8:90993674 (GRCh37)
Canonical SPDI:: NC_000008.11:89981445:C:A,NC_000008.11:89981445:C:T
Gene:: NBN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,initiator_codon_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.89981446C>A, NC_000008.11:g.89981446C>T, NC_000008.10:g.90993674C>A, NC_000008.10:g.90993674C>T, NG_008860.1:g.8226G>T, NG_008860.1:g.8226G>A, NM_002485.5:c.249G>T, NM_002485.5:c.249G>A, NM_002485.4:c.249G>T, NM_002485.4:c.249G>A, NM_001024688.3:c.3G>T, NM_001024688.3:c.3G>A, NM_001024688.2:c.3G>T, NM_001024688.2:c.3G>A, NM_001024688.1:c.3G>T, NM_001024688.1:c.3G>A, XM_011517045.2:c.3G>T, XM_011517045.2:c.3G>A, XM_011517045.1:c.3G>T, XM_011517045.1:c.3G>A, XM_024447163.2:c.3G>T, XM_024447163.2:c.3G>A, XM_024447163.1:c.3G>T, XM_024447163.1:c.3G>A, XM_011517046.2:c.249G>T, XM_011517046.2:c.249G>A, XM_011517046.1:c.249G>T, XM_011517046.1:c.249G>A, XM_047421796.1:c.249G>T, XM_047421796.1:c.249G>A, NP_002476.2:p.Met83Ile, NP_002476.2:p.Met83Ile, NP_001019859.1:p.Met1Ile, NP_001019859.1:p.Met1Ile, XP_011515347.1:p.Met1Ile, XP_011515347.1:p.Met1Ile, XP_024302931.1:p.Met1Ile, XP_024302931.1:p.Met1Ile, XP_011515348.1:p.Met83Ile, XP_011515348.1:p.Met83Ile, XP_047277752.1:p.Met83Ile, XP_047277752.1:p.Met83Ile

Select item 143739283815.

rs1437392838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:89964410 (GRCh38)
8:90976638 (GRCh37)
Canonical SPDI:: NC_000008.11:89964409:C:T
Gene:: NBN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.89964410C>T, NC_000008.10:g.90976638C>T, NG_008860.1:g.25262G>A, NM_002485.5:c.994G>A, NM_002485.4:c.994G>A, NM_001024688.3:c.748G>A, NM_001024688.2:c.748G>A, NM_001024688.1:c.748G>A, XM_011517045.2:c.748G>A, XM_011517045.1:c.748G>A, XM_024447163.2:c.748G>A, XM_024447163.1:c.748G>A, XM_011517046.2:c.994G>A, XM_011517046.1:c.994G>A, XM_047421795.1:c.115G>A, XM_047421796.1:c.994G>A, NP_002476.2:p.Gly332Arg, NP_001019859.1:p.Gly250Arg, XP_011515347.1:p.Gly250Arg, XP_024302931.1:p.Gly250Arg, XP_011515348.1:p.Gly332Arg, XP_047277751.1:p.Gly39Arg, XP_047277752.1:p.Gly332Arg

Select item 143472035216.

rs1434720352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:89982836 (GRCh38)
8:90995064 (GRCh37)
Canonical SPDI:: NC_000008.11:89982835:C:T
Gene:: NBN (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.89982836C>T, NC_000008.10:g.90995064C>T, NG_008860.1:g.6836G>A, NM_002485.5:c.57G>A, NM_002485.4:c.57G>A, NM_001024688.3:c.-240G>A, NM_001024688.2:c.-240G>A, NM_001024688.1:c.-240G>A, XM_011517045.2:c.-240G>A, XM_011517045.1:c.-240G>A, XM_024447163.2:c.-190G>A, XM_024447163.1:c.-190G>A, XM_011517046.2:c.57G>A, XM_011517046.1:c.57G>A, XM_047421796.1:c.57G>A

Select item 143465293517.

rs1434652935 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:89953689 (GRCh38)
8:90965917 (GRCh37)
Canonical SPDI:: NC_000008.11:89953688:T:C
Gene:: NBN (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.89953689T>C, NC_000008.10:g.90965917T>C, NG_008860.1:g.35983A>G, NM_002485.5:c.1400A>G, NM_002485.4:c.1400A>G, NM_001024688.3:c.1154A>G, NM_001024688.2:c.1154A>G, NM_001024688.1:c.1154A>G, XM_011517045.2:c.1154A>G, XM_011517045.1:c.1154A>G, XM_024447163.2:c.1154A>G, XM_024447163.1:c.1154A>G, XM_011517046.2:c.1401A>G, XM_011517046.1:c.1401A>G, XM_047421795.1:c.521A>G, NP_002476.2:p.Glu467Gly, NP_001019859.1:p.Glu385Gly, XP_011515347.1:p.Glu385Gly, XP_024302931.1:p.Glu385Gly, XP_047277751.1:p.Glu174Gly

Select item 143414610018.

rs1434146100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:89970536 (GRCh38)
8:90982764 (GRCh37)
Canonical SPDI:: NC_000008.11:89970535:C:A,NC_000008.11:89970535:C:G,NC_000008.11:89970535:C:T
Gene:: NBN (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.89970536C>A, NC_000008.11:g.89970536C>G, NC_000008.11:g.89970536C>T, NC_000008.10:g.90982764C>A, NC_000008.10:g.90982764C>G, NC_000008.10:g.90982764C>T, NG_008860.1:g.19136G>T, NG_008860.1:g.19136G>C, NG_008860.1:g.19136G>A, NM_002485.5:c.724G>T, NM_002485.5:c.724G>C, NM_002485.5:c.724G>A, NM_002485.4:c.724G>T, NM_002485.4:c.724G>C, NM_002485.4:c.724G>A, NM_001024688.3:c.478G>T, NM_001024688.3:c.478G>C, NM_001024688.3:c.478G>A, NM_001024688.2:c.478G>T, NM_001024688.2:c.478G>C, NM_001024688.2:c.478G>A, NM_001024688.1:c.478G>T, NM_001024688.1:c.478G>C, NM_001024688.1:c.478G>A, XM_011517045.2:c.478G>T, XM_011517045.2:c.478G>C, XM_011517045.2:c.478G>A, XM_011517045.1:c.478G>T, XM_011517045.1:c.478G>C, XM_011517045.1:c.478G>A, XM_024447163.2:c.478G>T, XM_024447163.2:c.478G>C, XM_024447163.2:c.478G>A, XM_024447163.1:c.478G>T, XM_024447163.1:c.478G>C, XM_024447163.1:c.478G>A, XM_011517046.2:c.724G>T, XM_011517046.2:c.724G>C, XM_011517046.2:c.724G>A, XM_011517046.1:c.724G>T, XM_011517046.1:c.724G>C, XM_011517046.1:c.724G>A, XM_047421795.1:c.-156G>T, XM_047421795.1:c.-156G>C, XM_047421795.1:c.-156G>A, XM_047421796.1:c.724G>T, XM_047421796.1:c.724G>C, XM_047421796.1:c.724G>A, NP_002476.2:p.Val242Phe, NP_002476.2:p.Val242Leu, NP_002476.2:p.Val242Ile, NP_001019859.1:p.Val160Phe, NP_001019859.1:p.Val160Leu, NP_001019859.1:p.Val160Ile, XP_011515347.1:p.Val160Phe, XP_011515347.1:p.Val160Leu, XP_011515347.1:p.Val160Ile, XP_024302931.1:p.Val160Phe, XP_024302931.1:p.Val160Leu, XP_024302931.1:p.Val160Ile, XP_011515348.1:p.Val242Phe, XP_011515348.1:p.Val242Leu, XP_011515348.1:p.Val242Ile, XP_047277752.1:p.Val242Phe, XP_047277752.1:p.Val242Leu, XP_047277752.1:p.Val242Ile

Select item 143142089719.

rs1431420897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:89970450 (GRCh38)
8:90982678 (GRCh37)
Canonical SPDI:: NC_000008.11:89970449:A:C
Gene:: NBN (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.89970450A>C, NC_000008.10:g.90982678A>C, NG_008860.1:g.19222T>G, NM_002485.5:c.810T>G, NM_002485.4:c.810T>G, NM_001024688.3:c.564T>G, NM_001024688.2:c.564T>G, NM_001024688.1:c.564T>G, XM_011517045.2:c.564T>G, XM_011517045.1:c.564T>G, XM_024447163.2:c.564T>G, XM_024447163.1:c.564T>G, XM_011517046.2:c.810T>G, XM_011517046.1:c.810T>G, XM_047421795.1:c.-70T>G, XM_047421796.1:c.810T>G

Select item 143024802120.

rs1430248021 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:89955485 (GRCh38)
8:90967713 (GRCh37)
Canonical SPDI:: NC_000008.11:89955484:C:T
Gene:: NBN (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 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.89955485C>T, NC_000008.10:g.90967713C>T, NG_008860.1:g.34187G>A, NM_002485.5:c.1195G>A, NM_002485.4:c.1195G>A, NM_001024688.3:c.949G>A, NM_001024688.2:c.949G>A, NM_001024688.1:c.949G>A, XM_011517045.2:c.949G>A, XM_011517045.1:c.949G>A, XM_024447163.2:c.949G>A, XM_024447163.1:c.949G>A, XM_011517046.2:c.1195G>A, XM_011517046.1:c.1195G>A, XM_047421795.1:c.316G>A, NP_002476.2:p.Asp399Asn, NP_001019859.1:p.Asp317Asn, XP_011515347.1:p.Asp317Asn, XP_024302931.1:p.Asp317Asn, XP_011515348.1:p.Asp399Asn, XP_047277751.1:p.Asp106Asn

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