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SLC24A3 c.1606+159G>A
Variant ID: 20-19677714-G-A
NM_020689.3(
SLC24A3
):c.1606+159G>A
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: SLC24A3: 1606+159G>A; rs1884826
PubMed Link:
30319441
Variant Present in the following documents:
Table_6.xlsx, sheet 1
Table_7.xlsx, sheet 1
Table_5.xlsx, sheet 1
View BVdb publication page
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: rs1884826
PubMed Link:
28472130
Variant Present in the following documents:
pone.0176516.s002.xlsx, sheet 1
View BVdb publication page