ELN c.860_865del ;(p.G287_I289delinsV)

Variant ID: 7-73466140-GGGGCAA-G

NM_000501.3(ELN):c.860_865del;(p.G287_I289delinsV)

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:

Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Bmc Medical Genetics
Zhou, Zhaowei Z; Ma, Lidan L; Zhou, Juan J; Song, Zhijian Z; Zhang, Jinmai J; Wang, Ke K; Chen, Boyu B; Pan, Dun D; Li, Zhiqiang Z; Li, Changgui C; Shi, Yongyong Y
Publication Date: 2018-08-10

Variant appearance in text: ELN: 860_865del
PubMed Link: 30097038
Variant Present in the following documents:
  • 12881_2018_595_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page