chr15:42676699:C>T Detail (hg19) (CAPN3)

Information

Genome

Assembly Position
hg19 chr15:42,676,699-42,676,699
hg38 chr15:42,384,501-42,384,501 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000070.2:c.328C>T NP_000061.1:p.Arg110Ter
NM_173087.1:c.328C>T NP_775110.1:p.Arg110Ter
NM_024344.1:c.328C>T NP_077320.1:p.Arg110Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 114240 OMIM
HGNC 1480 HGNC
Ensembl ENSG00000092529 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM4855427 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-07-21 criteria provided, multiple submitters, no conflicts autosomal recessive limb-girdle muscular dystrophy type 2A germline unknown Detail
Pathogenic 2023-03-04 criteria provided, multiple submitters, no conflicts Muscular dystrophy, limb-girdle, autosomal dominant 4 germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.573 Limb-girdle muscular dystrophy type 2A NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) AND Autosomal recessive limb-girdle muscular dystrophy typ... ClinVar Detail
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) AND Muscular dystrophy, limb-girdle, autosomal dominant 4 ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121434545 dbSNP
Genome
hg19
Position
chr15:42,676,699-42,676,699
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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