Variant #0000622764 (NC_000012.11:g.102040659G>A, MYBPC1(NM_002465.3):c.1084G>A)

Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.102040659G>A
DNA change (hg38) g.101646881G>A
Published as MYBPC1(NM_002465.4):c.1084G>A (p.V362I)
ISCN -
DB-ID MYBPC1_000020
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00042 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2019-12-06 12:43:26 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYBPC1 NM_002465.3 ?/. - c.1084G>A r.(?) p.(Val362Ile)