chr3:8745602:C>G Detail (hg38) (CAV3, OXTR)

Information

Genome

Assembly Position
hg19 chr3:8,787,288-8,787,288 View the variant detail on this assembly version.
hg38 chr3:8,745,602-8,745,602

HGVS

Type Transcript Protein
RefSeq NM_001234.4:c.191C>G NP_001225.1:p.Thr64Ser
NM_033337.2:c.191C>G NP_203123.1:p.Thr64Ser
Ensemble ENST00000343849.3:c.191C>G ENST00000343849.3:p.Thr64Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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 tgv11394323 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 Primary familial hypertrophic cardiomyopathy germline Detail
not provided 2012-04-15 no assertion provided not provided germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter Caveolinopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Cardiomyopathy, Hypertrophic, Familial NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_033337.3(CAV3):c.191C>G (p.Thr64Ser) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_033337.3(CAV3):c.191C>G (p.Thr64Ser) AND not provided ClinVar Detail
NM_033337.3(CAV3):c.191C>G (p.Thr64Ser) AND Caveolinopathy 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
rs121909280 dbSNP
Genome
hg38
Position
chr3:8,745,602-8,745,602
Variant Type
snv
Reference Allele
C
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs121909280
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0003
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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