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MPHOSPH9 c.3233C>A ;(p.A1078D)
Variant ID: 12-123645831-G-T
NM_022782.3(
MPHOSPH9
):c.3233C>A;(p.A1078D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Plos One
Bakhchane, Amina A; Charif, Majida M; Bousfiha, Amale A; Boulouiz, Redouane R; Nahili, Halima H; Rouba, Hassan H; Charoute, Hicham H; Lenaers, Guy G; Barakat, Abdelhamid A
Publication Date: 2017
Variant appearance in text: MPHOSPH9: 3233C>A; Ala1078Asp
PubMed Link:
28472130
Variant Present in the following documents:
pone.0176516.s002.xlsx, sheet 1
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs1260318
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
Genome-wide SNP typing reveals signatures of population history.
Genomics
Hughes, Austin L AL; Welch, Robert R; Puri, Vinita V; Matthews, Casey C; Haque, Kashif K; Chanock, Stephen J SJ; Yeager, Meredith M
Publication Date: 2008-07
Variant appearance in text: rs1260318
PubMed Link:
18485661
Variant Present in the following documents:
Main text
View BVdb publication page