ATM c.4544dup ;(p.N1515Kfs*16)

Variant ID: 11-108163449-G-GA

NM_000051.3(ATM):c.4544dup;(p.N1515Kfs*16)

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:

Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.

Scientific Reports
Chakravorty, Samya S; Logan, Rachel R; Elson, Molly J MJ; Luke, Rebecca R RR; Verma, Sumit S
Publication Date: 2020-09-30

Variant appearance in text: ATM: 4544dup; Asn1515Lysfs*16
PubMed Link: 32999401
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_73219.pdf
View BVdb publication page