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DSCAML1 c.512-4064C>T
Variant ID: 11-117407301-G-A
NM_020693.4(
DSCAML1
):c.512-4064C>T
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:
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Human Molecular Genetics
Heidari, Abolfazl A; Tongsook, Chanakan C; Najafipour, Reza R; Musante, Luciana L; Vasli, Nasim N; Garshasbi, Masoud M; Hu, Hao H; Mittal, Kirti K; McNaughton, Amy J M AJ; Sritharan, Kumudesh K; Hudson, Melissa M; Stehr, Henning H; Talebi, Saeid S; Moradi, Mohammad M; Darvish, Hossein H; Arshad Rafiq, Muhammad M; Mozhdehipanah, Hossein H; Rashidinejad, Ali A; Samiei, Shahram S; Ghadami, Mohsen M; Windpassinger, Christian C; Gillessen-Kaesbach, Gabriele G; Tzschach, Andreas A; Ahmed, Iltaf I; Mikhailov, Anna A; Stavropoulos, D James DJ; Carter, Melissa T MT; Keshavarz, Soraya S; Ayub, Muhammad M; Najmabadi, Hossein H; Liu, Xudong X; Ropers, Hans Hilger HH; Macheroux, Peter P; Vincent, John B JB
Publication Date: 2015-10-15
Variant appearance in text: rs521609
PubMed Link:
26206890
Variant Present in the following documents:
Main text
View BVdb publication page