KCTD7 c.704G>C ;(p.W235S)

Variant ID: 7-66104053-G-C

NM_153033.4(KCTD7):c.704G>C;(p.W235S)

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:

KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.

Science Advances
Wang, Yalan Y; Cao, Xiaotong X; Liu, Pei P; Zeng, Weijia W; Peng, Rui R; Shi, Qing Q; Feng, Kai K; Zhang, Pingzhao P; Sun, Huiru H; Wang, Chenji C; Wang, Hongyan H
Publication Date: 2022-08-05

Variant appearance in text: KCTD7: W235S
PubMed Link: 35921411
Variant Present in the following documents:
  • sciadv.abm5578_sm.pdf
View BVdb publication page