Variant #0000340828 (NC_000012.11:g.102064118T>C, MYBPC1(NM_002465.3):c.2544T>C)

Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.102064118T>C
DNA change (hg38) g.101670340T>C
Published as MYBPC1(NM_002465.4):c.2544T>C (p.I848=)
ISCN -
DB-ID MYBPC1_000011 See all 3 reported entries
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) 0.95762 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MYBPC1 NM_002465.3 -/. - c.2544T>C r.(?) p.(Ile848=)