Full data view for gene NRK

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

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.941G>A r.(?) p.(Arg314Gln) Unknown - VUS g.105150502G>A g.105906509G>A NRK(NM_198465.2):c.941G>A (p.(Arg314Gln)), NRK(NM_198465.3):c.941G>A (p.R314Q) - NRK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.941G>A r.(?) p.(Arg314Gln) Unknown - likely benign g.105150502G>A g.105906509G>A NRK(NM_198465.2):c.941G>A (p.(Arg314Gln)), NRK(NM_198465.3):c.941G>A (p.R314Q) - NRK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1072G>A r.(?) p.(Val358Met) Parent #1 - VUS g.105152282G>A g.105908290G>A V358M - NRK_000013 recurrent, found 50 times PubMed: Tarpey 2009 - - Germline - 50/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 50 Lucy Raymond
-?/. - c.1276C>G r.(?) p.(Pro426Ala) Unknown - likely benign g.105152909C>G g.105908917C>G NRK(NM_198465.3):c.1276C>G (p.P426A) - NRK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1368A>G r.(?) p.(=) Maternal (inferred) - VUS g.105153001A>G g.105909009= - - NRK_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1368A>G r.(?) p.(=) Maternal (inferred) - VUS g.105153001A>G g.105909009= - - NRK_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1464T>A r.(?) p.(Pro488=) Unknown - likely benign g.105153097T>A g.105909105T>A NRK(NM_198465.3):c.1464T>A (p.P488=) - NRK_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1533A>G r.(?) p.(Gln511=) Unknown - likely benign g.105153166A>G g.105909174A>G NRK(NM_198465.3):c.1533A>G (p.Q511=) - NRK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1715A>T r.(?) p.(Glu572Val) Unknown - VUS g.105153348A>T g.105909356A>T NRK(NM_198465.2):c.1715A>T (p.(Glu572Val)) - NRK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1736A>G r.(?) p.(Glu579Gly) Unknown - likely benign g.105153369A>G g.105909377A>G NRK(NM_198465.3):c.1736A>G (p.E579G) - NRK_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2054_2056del r.(?) p.(Lys685_Ser686delinsThr) Unknown - likely benign g.105153687_105153689del - NRK(NM_198465.3):c.2054_2056delAAT (p.K685_S686delinsT) - NRK_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2180G>A r.(?) p.(Arg727His) Unknown - likely benign g.105153813G>A g.105909821G>A NRK(NM_198465.2):c.2180G>A (p.(Arg727His)) - NRK_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2230C>A r.(?) p.(Gln744Lys) Parent #1 - VUS g.105153863C>A g.105909871C>A Q744K - NRK_000014 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.2365C>T r.(?) p.(Pro789Ser) Unknown - likely benign g.105159737C>T g.105915745C>T NRK(NM_198465.2):c.2365C>T (p.(Pro789Ser)) - NRK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2779A>G r.(?) p.(Ser927Gly) Parent #1 - VUS g.105167278A>G g.105923286A>G S927G - NRK_000015 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.2911G>C r.(?) p.(Asp971His) Unknown - likely benign g.105167410G>C g.105923418G>C NRK(NM_198465.3):c.2911G>C (p.D971H) - NRK_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2912A>G r.(?) p.(Asp971Gly) Parent #1 - VUS g.105167411A>G g.105923419A>G D971G - NRK_000016 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.3044C>T r.(?) p.(Ala1015Val) Parent #1 - VUS g.105168755C>T g.105924763C>T A1015V - NRK_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.3281C>A r.(?) p.(Pro1094His) Unknown - likely benign g.105168992C>A g.105925000C>A NRK(NM_198465.3):c.3281C>A (p.P1094H) - NRK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3392A>G r.(?) p.(Asn1131Ser) Unknown - likely benign g.105178329A>G g.105934337A>G NRK(NM_198465.2):c.3392A>G (p.(Asn1131Ser)) - NRK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3403T>C r.(?) p.(Ser1135Pro) Unknown - VUS g.105178340T>C g.105934348T>C NRK(NM_198465.2):c.3403T>C (p.(Ser1135Pro)) - NRK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3679C>G r.(?) p.(Arg1227Gly) Unknown - likely benign g.105181454C>G - NRK(NM_198465.3):c.3679C>G (p.R1227G) - NRK_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3752G>A r.(?) p.(Arg1251His) Unknown - likely benign g.105181527G>A g.105937535G>A NRK(NM_198465.3):c.3752G>A (p.R1251H) - NRK_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4154T>C r.(?) p.(Val1385Ala) Unknown - likely benign g.105189958T>C g.105945966T>C NRK(NM_198465.3):c.4154T>C (p.V1385A) - NRK_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4206A>G r.(=) p.(=) Parent #1 - VUS g.105190309A>G g.105946317A>G V1402V - NRK_000018 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.4336G>A r.(?) p.(Val1446Met) Unknown - likely benign g.105190439G>A g.105946447G>A NRK(NM_198465.3):c.4336G>A (p.V1446M) - NRK_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4495G>A r.(?) p.(Asp1499Asn) Parent #1 - VUS g.105193708G>A g.105949716G>A D1499N - NRK_000019 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.4567C>T r.(?) p.(Arg1523Cys) Unknown - VUS g.105197079C>T g.105953087C>T NRK(NM_198465.3):c.4567C>T (p.R1523C) - NRK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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