MUC16 c.6979del ;(p.S2327Pfs*3)

Variant ID: 19-9084835-GA-G

NM_024690.2(MUC16):c.6979del;(p.S2327Pfs*3)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole exome sequencing of a Saudi family and systems biology analysis identifies CPED1 as a putative causative gene to Celiac Disease.

Saudi Journal Of Biological Sciences
Bokhari, Hifaa A HA; Shaik, Noor Ahmad NA; Banaganapalli, Babajan B; Nasser, Khalidah Khalid KK; Ageel, Hossain Ibrahim HI; Al Shamrani, Ali Saad AS; Rashidi, Omran M OM; Al Ghubayshi, Omar Yaseen OY; Shaik, Jilani J; Ahmad, Aftab A; Alrayes, Nuha Mohammad NM; Al-Aama, Jumana Yousuf JY; Elango, Ramu R; Saadah, Omar Ibrahim OI
Publication Date: 2020-06

Variant appearance in text: MUC16: 6979delT; S2327fs; rs759867982
PubMed Link: 32489286
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page