Unique variants in gene WTIP

Information The variants shown are described using the NM_001080436.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.1102C>T likely pathogenic r.(?) p.(Arg368Cys) g.34986626C>T - WTIP(NM_001080436.1):c.1102C>T (p.(Arg368Cys)) - WTIP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1190G>A likely benign r.(?) p.(Arg397His) g.34991071G>A - WTIP(NM_001080436.1):c.1190G>A (p.(Arg397His)) - WTIP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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