Unique variants in gene NRK

Information The variants shown are described using the NM_198465.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.219T>A likely benign - - g.105125739T>A - NRK:NM_198465.2:c.219T>A - NRK_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.253-4A>G likely benign - - g.105132283A>G - NRK:NM_198465.2:c.253-4A>G - NRK_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.941G>A likely benign - - g.105150502G>A - NRK:NM_198465.2:c.941G>A - NRK_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1072G>A - r.(?) p.(Val358Met) g.105152282G>A - V358M - NRK_000013 recurrent, found 50 times PubMed: Tarpey 2009 - - Germline - 50/208 cases - - - Lucy Raymond
?/. 2 - c.1368A>G - - p.(=) g.105153001A>G - - - NRK_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1533A>G likely benign r.(=) p.(=) g.105153166A>G - NRK:c.1533A>G (Q511=) - NRK_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1715A>T likely benign - - g.105153348A>T - NRK:NM_198465.2:c.1715A>T - NRK_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2230C>A - r.(?) p.(Gln744Lys) g.105153863C>A - Q744K - NRK_000014 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.2365C>T likely benign - - g.105159737C>T - NRK:NM_198465.2:c.2365C>T - NRK_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2779A>G - r.(?) p.(Ser927Gly) g.105167278A>G - S927G - NRK_000015 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.2912A>G - r.(?) p.(Asp971Gly) g.105167411A>G - D971G - NRK_000016 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.3044C>T - r.(?) p.(Ala1015Val) g.105168755C>T - A1015V - NRK_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.3182G>T likely benign - - g.105168893G>T - NRK:NM_198465.2:c.3182G>T - NRK_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3281C>A likely benign - - g.105168992C>A - NRK:NM_198465.2:c.3281C>A - NRK_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3392A>G likely benign - - g.105178329A>G - NRK:NM_198465.2:c.3392A>G - NRK_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3403T>C likely benign - - g.105178340T>C - NRK:NM_198465.2:c.3403T>C - NRK_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4206A>G - r.(=) p.(=) g.105190309A>G - V1402V - NRK_000018 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.4495G>A - r.(?) p.(Asp1499Asn) g.105193708G>A - D1499N - NRK_000019 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.4567C>T VUS r.(?) p.(Arg1523Cys) g.105197079C>T - NRK:c.4567C>T (R1523C) - NRK_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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