SI c.545_546del ;(p.G182Afs*5)

Variant ID: 3-164785217-GTC-G

NM_001041.3(SI):c.545_546del;(p.G182Afs*5)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Mutation analysis of a cohort of US patients with hemophilia B.

American Journal Of Hematology
Li, Tengguo T; Miller, Connie H CH; Driggers, Jennifer J; Payne, Amanda B AB; Ellingsen, Dorothy D; Hooper, W Craig WC
Publication Date: 2014-04

Variant appearance in text: SI: 545_546del
PubMed Link: 24375831
Variant Present in the following documents:
  • Main text
View BVdb publication page