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ESR1 c.1087_1096+49del
Variant ID: 6-152265634-GAGGGTGCCAGGTAAGAATGCGAAGCGCAGCTTTTAAGAGTCAATAGCTTTTCAAGAACT-G
NM_000125.3(
ESR1
):c.1087_1096+49del
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:
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.
Bmc Genetics
Haidar, Zahraa Z; Temanni, Ramzi R; Chouery, Eliane E; Jithesh, Puthen P; Liu, Wei W; Al-Ali, Rashid R; Wang, Ena E; Marincola, Francesco M FM; Jalkh, Nadine N; Haddad, Soha S; Haidar, Wassim W; Chouchane, Lotfi L; Mégarbané, André A
Publication Date: 2017-01-19
Variant appearance in text: ESR: 1087_1706del
PubMed Link:
28103792
Variant Present in the following documents:
Main text
12863_2017_Article_471.pdf
View BVdb publication page