EHBP1 c.3254T>C ;(p.L1085S)

Variant ID: 2-63265928-T-C

NM_001142616.1(EHBP1):c.3254T>C;(p.L1085S)

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:

Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics
Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD
Publication Date: 2016-12-22

Variant appearance in text: EHBP1: 3254T>C
PubMed Link: 28007035
Variant Present in the following documents:
  • 12881_2016_359_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page