SREBF1 c.3214+20C>G

Variant ID: 17-17716662-G-C

NM_004176.4(SREBF1):c.3214+20C>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs11653007
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: SREBF1: 3214+20C>G; rs11653007
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page



Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: an epigenome-wide approach. The REGICOR study.

Human Molecular Genetics
Sayols-Baixeras, S S; Subirana, I I; Lluis-Ganella, C C; Civeira, F F; Roquer, J J; Do, A N AN; Absher, D D; Cenarro, A A; Muñoz, D D; Soriano-Tárraga, C C; Jiménez-Conde, J J; Ordovas, J M JM; Senti, M M; Aslibekyan, S S; Marrugat, J J; Arnett, D K DK; Elosua, R R
Publication Date: 2016-10-15

Variant appearance in text: rs11653007
PubMed Link: 28173150
Variant Present in the following documents:
  • Main text
View BVdb publication page