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.




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