COL3A1 c.3770A>G ;(p.N1257S)

Variant ID: 2-189873894-A-G

NM_000090.3(COL3A1):c.3770A>G;(p.N1257S)

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:

Modifier genes in SCN1A-related epilepsy syndromes.

Molecular Genetics & Genomic Medicine
de Lange, Iris M IM; Mulder, Flip F; van 't Slot, Ruben R; Sonsma, Anja C M ACM; van Kempen, Marjan J A MJA; Nijman, Isaac J IJ; Ernst, Robert F RF; Knoers, Nine V A M NVAM; Brilstra, Eva H EH; Koeleman, Bobby P C BPC
Publication Date: 2020-04

Variant appearance in text: COL3A1: 3770A>G; Asn1257Ser
PubMed Link: 32032478
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1103.pdf
View BVdb publication page