Variant #0000613720 (NC_000011.9:g.76804759A>G, NM_004055.4:c.197A>G (CAPN5))

Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.76804759A>G
DNA change (hg38) g.77093713A>G
Published as CAPN5(NM_004055.4):c.197A>G (p.D66G)
ISCN -
DB-ID CAPN5_000034
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) 0.00014 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CAPN5 NM_004055.4 -?/. - c.197A>G r.(?) p.(Asp66Gly)
OMP NM_006189.1 -?/. - c.-9127A>G r.(?) p.(=)


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