All transcript variants in gene NRK

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

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

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     
-?/. - c.219T>A likely benign r.(?) p.(Asn73Lys) g.105125739T>A - NRK(NM_198465.2):c.219T>A (p.(Asn73Lys)) - NRK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.253-4A>G likely benign r.spl? p.? g.105132283A>G - NRK(NM_198465.2):c.253-4A>G (p.?) - NRK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.941G>A VUS r.(?) p.(Arg314Gln) g.105150502G>A - NRK(NM_198465.2):c.941G>A (p.(Arg314Gln)) - NRK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1072G>A - r.(?) p.(Val358Met) g.105152282G>A - V358M - NRK_000013 recurrent, found 50 times PubMed: Tarpey 2009 - - Germline - 50/208 cases - 0 - Lucy Raymond
-?/. - c.1276C>G likely benign r.(?) p.(Pro426Ala) g.105152909C>G - NRK(NM_198465.3):c.1276C>G (p.P426A) - NRK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1368A>G - - p.(=) g.105153001A>G - - - NRK_000001 - - - - Germline - - - - - Yu Sun
?/. - c.1368A>G - - p.(=) g.105153001A>G - - - NRK_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.1533A>G likely benign r.(?) p.(=) g.105153166A>G - NRK(NM_198465.3):c.1533A>G (p.Q511=) - NRK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1715A>T VUS r.(?) p.(Glu572Val) g.105153348A>T - NRK(NM_198465.2):c.1715A>T (p.(Glu572Val)) - NRK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1736A>G likely benign r.(?) p.(Glu579Gly) g.105153369A>G - NRK(NM_198465.3):c.1736A>G (p.E579G) - NRK_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2230C>A - r.(?) p.(Gln744Lys) g.105153863C>A - Q744K - NRK_000014 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.2365C>T likely benign r.(?) p.(Pro789Ser) g.105159737C>T - NRK(NM_198465.2):c.2365C>T (p.(Pro789Ser)) - NRK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2779A>G - r.(?) p.(Ser927Gly) g.105167278A>G - S927G - NRK_000015 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.2912A>G - r.(?) p.(Asp971Gly) g.105167411A>G - D971G - NRK_000016 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.3044C>T - r.(?) p.(Ala1015Val) g.105168755C>T - A1015V - NRK_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.3182G>T likely benign r.(?) p.(Gly1061Val) g.105168893G>T - NRK(NM_198465.2):c.3182G>T (p.(Gly1061Val)) - NRK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3281C>A likely benign r.(?) p.(Pro1094His) g.105168992C>A - NRK(NM_198465.2):c.3281C>A (p.(Pro1094His)) - NRK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3281C>A likely benign r.(?) p.(Pro1094His) g.105168992C>A - NRK(NM_198465.2):c.3281C>A (p.(Pro1094His)) - NRK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3392A>G likely benign r.(?) p.(Asn1131Ser) g.105178329A>G - NRK(NM_198465.2):c.3392A>G (p.(Asn1131Ser)) - NRK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.3403T>C VUS r.(?) p.(Ser1135Pro) g.105178340T>C - NRK(NM_198465.2):c.3403T>C (p.(Ser1135Pro)) - NRK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3752G>A likely benign r.(?) p.(Arg1251His) g.105181527G>A - NRK(NM_198465.3):c.3752G>A (p.R1251H) - NRK_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3800-5A>C likely benign r.spl? p.? g.105183861A>C - NRK(NM_198465.2):c.3800-5A>C (p.?) - NRK_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.4154T>C likely benign r.(?) p.(Val1385Ala) g.105189958T>C - NRK(NM_198465.2):c.4154T>C (p.(Val1385Ala)) - NRK_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.4206A>G - r.(=) p.(=) g.105190309A>G - V1402V - NRK_000018 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.4495G>A - r.(?) p.(Asp1499Asn) g.105193708G>A - D1499N - NRK_000019 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.4567C>T VUS r.(?) p.(Arg1523Cys) g.105197079C>T - NRK(NM_198465.3):c.4567C>T (p.R1523C) - NRK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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