chr3:8745725:C>T Detail (hg38) (CAV3, OXTR)

Information

Genome

Assembly Position
hg19 chr3:8,787,411-8,787,411 View the variant detail on this assembly version.
hg38 chr3:8,745,725-8,745,725

HGVS

Type Transcript Protein
RefSeq NM_001234.4:c.314C>T NP_001225.1:p.Pro105Leu
NM_033337.2:c.314C>T NP_203123.1:p.Pro105Leu
Ensemble ENST00000343849.3:c.314C>T ENST00000343849.3:p.Pro105Leu
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 601253 OMIM
HGNC 1529 HGNC
Ensembl ENSG00000182533 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-01-01 no assertion criteria provided rippling muscle disease 2 germline Detail
not provided 2012-04-15 no assertion provided not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 RIPPLING MUSCLE DISEASE 2 (disorder) NA CLINVAR Detail
0.560 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C NA CLINVAR Detail
<0.001 muscular atrophy Loss of caveolin-3 in P104L mutant caveolin-3 transgenic mice caused muscular at... BeFree 17039257 Detail
0.251 Muscular Dystrophies, Limb-Girdle The current study characterized the biochemical and cardiac parameters of P104L ... BeFree 14645200 Detail
<0.001 hypertrophic cardiomyopathy Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomy... BeFree 14645200 Detail
<0.001 muscular atrophy Loss of caveolin-3 in P104L mutant caveolin-3 transgenic mice caused muscular at... BeFree 17039257 Detail
0.251 Muscular Dystrophies, Limb-Girdle Here, we explored the functional consequences of a Cav-3 mutation (P104L) induci... BeFree 18509671 Detail
0.251 Muscular Dystrophies, Limb-Girdle Skeletal muscle expressing Pro104Leu mutant caveolin 3 (CAV3(P104L)) in mouse be... BeFree 22584670 Detail
0.006 muscular dystrophy Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adul... BeFree 18509671 Detail
<0.001 muscular dystrophy Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adul... BeFree 18509671 Detail
0.006 hypertrophic cardiomyopathy Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomy... BeFree 14645200 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_033337.3(CAV3):c.314C>T (p.Pro105Leu) AND Rippling muscle disease 2 ClinVar Detail
NM_033337.3(CAV3):c.314C>T (p.Pro105Leu) AND not provided ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Loss of caveolin-3 in P104L mutant caveolin-3 transgenic mice caused muscular atrophy with increase ... DisGeNET Detail
The current study characterized the biochemical and cardiac parameters of P104L mutant caveolin-3 tr... DisGeNET Detail
Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomyopathy with enhanced... DisGeNET Detail
Loss of caveolin-3 in P104L mutant caveolin-3 transgenic mice caused muscular atrophy with increase ... DisGeNET Detail
Here, we explored the functional consequences of a Cav-3 mutation (P104L) inducing the 1C type limb-... DisGeNET Detail
Skeletal muscle expressing Pro104Leu mutant caveolin 3 (CAV3(P104L)) in mouse becomes atrophied and ... DisGeNET Detail
Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adult mouse skeletal mus... DisGeNET Detail
Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adult mouse skeletal mus... DisGeNET Detail
Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomyopathy with enhanced... 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
rs116840805 dbSNP
Genome
hg38
Position
chr3:8,745,725-8,745,725
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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