GAA c.305_308del ;(p.Q102Pfs*39)

Variant ID: 17-78078690-CAGTG-C

NM_000152.3(GAA):c.305_308del;(p.Q102Pfs*39)

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:

Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.

Molecular Genetics And Metabolism Reports
AlBanji, Mohammed H MH; AlSaad, Abdulaziz N AN; AlAnazi, Riyam F RF; Aleisa, Zahra A ZA; Alam, Dalya S DS; Alhashim, Aqeela H AH
Publication Date: 2020-12

Variant appearance in text: GAA: 305_308del
PubMed Link: 33101984
Variant Present in the following documents:
  • main.pdf
View BVdb publication page