chr19:49168301:C>T Detail (hg38) (TRPM4)

Information

Genome

Assembly Position
hg19 chr19:49,671,558-49,671,558 View the variant detail on this assembly version.
hg38 chr19:49,168,301-49,168,301

HGVS

Type Transcript Protein
RefSeq NM_001321281.1:c.490C>T NP_001308210.1:p.Arg164Trp
NM_001321282.1:c.490C>T NP_001308211.1:p.Arg164Trp
NM_001321283.1:c.490C>T NP_001308212.1:p.Arg164Trp
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 Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 606936 OMIM
HGNC 17993 HGNC
Ensembl ENSG00000130529 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 2023-10-09 criteria provided, single submitter progressive familial heart block type IB germline Detail
Uncertain significance 2021-06-03 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Progressive Familial Heart Block, Type Ib NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_017636.4(TRPM4):c.490C>T (p.Arg164Trp) AND Progressive familial heart block type IB ClinVar Detail
NM_017636.4(TRPM4):c.490C>T (p.Arg164Trp) 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
rs387907216 dbSNP
Genome
hg38
Position
chr19:49,168,301-49,168,301
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121270
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6492125010307577E-5
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