Genomic variant #0000554232

Chromosome 15
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42652065G>A
DNA change (hg38) -
Published as CAPN3(NM_000070.2):c.62G>A (p.(Gly21Glu))
ISCN -
DB-ID CAPN3_000265 See all 4 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 (large NGS studies) 0.01384 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CAPN3 NM_000070.2 -?/. - c.62G>A likely benign r.(?) p.(Gly21Glu)