Full data view for gene NKRF

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     

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.149A>G r.(?) p.(Lys50Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.156T>C r.(?) p.(=) Parent #1 - likely benign g.118725232A>G g.119591269A>G H52H - NKRF_000004 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.1255G>A r.(?) p.(Val419Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1897C>T r.(?) p.(Arg633Trp) Unknown - VUS g.118723491G>A - NKRF(NM_001173488.1):c.1897C>T (p.R633W) - NKRF_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*958del r.(=) p.(=) Unknown - VUS g.118722357del g.119588394del - - NKRF_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*958del r.(=) p.(=) Unknown - VUS g.118722357del g.119588394del - - NKRF_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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