EHBP1 c.3254_3255insACCTTTTAC ;(p.L1085_R1086insPFT)

EHBP1 c.3254_3255insACCTTTTAC ;(p.L1085_R1086insPFT)

Variant ID: 2-63265928-T-TACCTTTTAC

NM_001142616.1(EHBP1):c.3254_3255insACCTTTTAC;(p.L1085_R1086insPFT)

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:

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Cold Spring Harbor Molecular Case Studies

Thiffault, Isabelle I; Atherton, Andrea A; Heese, Bryce A BA; T Abdelmoity, Ahmed A; Pawar, Kailash K; Farrow, Emily E; Zellmer, Lee L; Miller, Neil N; Soden, Sarah S; Saunders, Carol C

Publication Date: 2020-06

Variant appearance in text: EHBP1: 3254_3255insACCTTTTAC

PubMed Link: 32358097

Variant Present in the following documents:

supp_mcs.a003970_Supplemental_Table.xlsx, sheet 4

View BVdb publication page