PAH c.183C>A ;(p.N61K)

Variant ID: 12-103288682-G-T

NM_000277.1(PAH):c.183C>A;(p.N61K)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.

Genetic Testing And Molecular Biomarkers
Silver, Ari J AJ; Larson, Jessica L JL; Silver, Maxwell J MJ; Lim, Regine M RM; Borroto, Carlos C; Spurrier, Brett B; Morriss, Anne A; Silver, Lee M LM
Publication Date: 2016-06

Variant appearance in text: PAH: N61K
PubMed Link: 27104957
Variant Present in the following documents:
  • gtmb.2016.0014.pdf
View BVdb publication page