chr19:49200395:A>G Detail (hg38) (TRPM4)

Information

Genome

Assembly Position
hg19 chr19:49,703,652-49,703,652 View the variant detail on this assembly version.
hg38 chr19:49,200,395-49,200,395

HGVS

Type Transcript Protein
RefSeq NM_001321281.1:c.2741A>G NP_001308210.1:p.Lys914Arg
NM_001321282.1:c.2741A>G NP_001308211.1:p.Lys914Arg
NM_001321283.1:c.2741A>G NP_001308212.1:p.Lys914Arg
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 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 2012-01-01 no assertion criteria provided progressive familial heart block type IB 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.2741A>G (p.Lys914Arg) AND Progressive familial heart block type IB 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
rs172151858 dbSNP
Genome
hg38
Position
chr19:49,200,395-49,200,395
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser