All variants in the NKRF gene

Information The variants shown are described using the NM_017544.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.149A>G r.(?) p.(Lys50Arg) - likely benign g.118725239T>C g.119591276T>C NKRF(NM_001173487.1):c.194A>G (p.(Lys65Arg)) - NKRF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. 3 c.156T>C r.(?) p.(=) - likely benign g.118725232A>G g.119591269A>G H52H - NKRF_000004 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-?/. - c.1255G>A r.(?) p.(Val419Ile) - likely benign g.118724133C>T g.119590170C>T NKRF(NM_001173488.1):c.1255G>A (p.V419I) - NKRF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1897C>T r.(?) p.(Arg633Trp) - VUS g.118723491G>A - NKRF(NM_001173488.1):c.1897C>T (p.R633W) - NKRF_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*958del r.(=) p.(=) - VUS g.118722357del g.119588394del - - NKRF_000001 - - - - Germline - - - - - Yu Sun
?/. - c.*958del r.(=) p.(=) - VUS g.118722357del g.119588394del - - NKRF_000001 - - - - Germline - - - - - Yu Sun
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