Unique variants in gene SRCIN1

Information The variants shown are described using the NM_025248.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend  

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.2226G>T VUS r.(?) p.(Lys742Asn) g.36709067C>A - SRCIN1(NM_025248.2):c.2226G>T (p.K742N) - SRCIN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2266G>A VUS r.(?) p.(Gly756Ser) g.36709027C>T - SRCIN1(NM_025248.2):c.2266G>A (p.G756S) - SRCIN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2308G>A VUS r.(?) p.(Gly770Arg) g.36708985C>T - SRCIN1(NM_025248.2):c.2308G>A (p.G770R) - SRCIN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2737C>G likely benign r.(?) p.(Arg913Gly) g.36707616G>C - SRCIN1(NM_025248.2):c.2737C>G (p.(Arg913Gly)) - SRCIN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend