SI c.2302-42_2318del

Variant ID: 3-164755796-CCATGGCCTTTTTGCACCCTAATAATTGGAAGATTAAAAACATTCTTAATATTATTGAAG-C

NM_001041.3(SI):c.2302-42_2318del

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:

Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.

American Journal Of Medical Genetics. Part A
Zolotov, Sagit S; Xing, Chao C; Mahamid, Riad R; Shalata, Adel A; Sheikh-Ahmad, Mohammed M; Garg, Abhimanyu A
Publication Date: 2017-01

Variant appearance in text: SI: 2300_2318del
PubMed Link: 27862896
Variant Present in the following documents:
  • Main text
View BVdb publication page