MTHFR c.1315_1316delinsTG ;(p.L439C)

Variant ID: 1-11854446-AG-CA

NM_005957.4(MTHFR):c.1315_1316delinsTG;(p.L439C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.

Aging
Liu, Xi X; Li, Yu Y; Wang, Menghan M; Wang, Xiaojun X; Zhang, Limin L; Peng, Tao T; Liang, Wenping W; Wang, Zhe Z; Lu, Hong H
Publication Date: 2020-12-03

Variant appearance in text: MTHFR: L439C
PubMed Link: 33290257
Variant Present in the following documents:
  • Main text
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