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EHBP1 c.553A>G ;(p.N185D)
Variant ID: 2-63058212-A-G
NM_001142616.1(
EHBP1
):c.553A>G;(p.N185D)
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:
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Npj Genomic Medicine
Sakaguchi, Narumi N; Suyama, Mikita M
Publication Date: 2022-03-18
Variant appearance in text: EHBP1: 553A>G; Asn185Asp
PubMed Link:
35304488
Variant Present in the following documents:
41525_2022_294_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page