ABCG5 c.751C>G ;(p.Q251E)

Variant ID: 2-44053544-G-C

NM_022436.2(ABCG5):c.751C>G;(p.Q251E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Mena, Rafael R; Mendoza, Esperanza E; Gomez Peña, Maria M; Valencia, C Alexander CA; Ullah, Ehsan E; Hufnagel, Robert B RB; Prada, Carlos E CE
Publication Date: 2020-12

Variant appearance in text: ABCG5: 751C>G; Gln251Glu
PubMed Link: 33219631
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs140111105
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page