MTHFR c.1261_1262insCA ;(p.W421Sfs*6)

Variant ID: 1-11854500-C-CTG

NM_005957.4(MTHFR):c.1261_1262insCA;(p.W421Sfs*6)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.

Orphanet Journal Of Rare Diseases
Alfadhel, Majid M; Benmeakel, Mohammed M; Hossain, Mohammad Arif MA; Al Mutairi, Fuad F; Al Othaim, Ali A; Alfares, Ahmed A AA; Al Balwi, Mohammed M; Alzaben, Abdullah A; Eyaid, Wafaa W
Publication Date: 2016-09-15

Variant appearance in text: MTHFR: Trp421Serfs*6
PubMed Link: 27629047
Variant Present in the following documents:
  • Main text
  • 13023_2016_Article_510.pdf
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