chr7:151262815:C>T Detail (hg19) (PRKAG2)

Information

Genome

Assembly Position
hg19 chr7:151,262,815-151,262,815
hg38 chr7:151,565,729-151,565,729 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_016203.3:c.1390G>A NP_057287.2:p.Asp464Asn
NM_001040633.1:c.1258G>A NP_001035723.1:p.Asp420Asn
NM_001304531.1:c.667G>A NP_001291460.1:p.Asp223Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 602743 OMIM
HGNC 9386 HGNC
Ensembl ENSG00000106617 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
Uncertain significance 2016-06-16 criteria provided, single submitter not specified germline Detail
Uncertain significance 2015-07-23 criteria provided, single submitter Primary familial hypertrophic cardiomyopathy germline Detail
Uncertain significance 2018-01-13 criteria provided, single submitter hypertrophic cardiomyopathy 6 germline Detail
Uncertain significance 2022-10-31 criteria provided, single submitter lethal congenital glycogen storage disease of heart germline Detail
Uncertain significance 2018-01-13 criteria provided, single submitter Wolff-Parkinson-White pattern germline Detail
Uncertain significance 2020-07-10 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-05-16 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Uncertain significance 2023-08-15 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy germline Detail
Uncertain significance 2024-02-21 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) AND not specified ClinVar Detail
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) AND Primary familial hypertrophic cardiomyopathy ClinVar Detail
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) AND Hypertrophic cardiomyopathy 6 ClinVar Detail
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) AND Lethal congenital glycogen storage disease of heart ClinVar Detail
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) AND Wolff-Parkinson-White pattern ClinVar Detail
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) AND not provided ClinVar Detail
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) AND Cardiomyopathy ClinVar Detail
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) AND Cardiovascular phenotype 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
rs397517264 dbSNP
Genome
hg19
Position
chr7:151,262,815-151,262,815
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
121408
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.11834475487612E-5
Genome browser