LDLR c.647G>T ;(p.C216F)

Variant ID: 19-11216229-G-T

NM_000527.4(LDLR):c.647G>T;(p.C216F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

Clinical Genetics
Lee, K K; Khan, S S; Islam, A A; Ansar, M M; Andrade, P B PB; Kim, S S; Santos-Cortez, R L P RL; Ahmad, W W; Leal, S M SM
Publication Date: 2012-07

Variant appearance in text: LDLR: 647G>T
PubMed Link: 21534946
Variant Present in the following documents:
  • Main text
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