chr19:49685865:G>A Detail (hg19) (HRC, TRPM4)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr19:49,685,865-49,685,865
hg38	chr19:49,182,608-49,182,608 View the variant detail on this assembly version.

HGVS

TRPM4

Type	Transcript	Protein
RefSeq	NM_001321281.1:c.1294G>A	NP_001308210.1:p.Ala432Thr
	NM_001321282.1:c.1294G>A	NP_001308211.1:p.Ala432Thr
	NM_001321283.1:c.1294G>A	NP_001308212.1:p.Ala432Thr
	NM_001321285.1:c.1294G>A	NP_001308214.1:p.Ala432Thr
	NM_017636.3:c.1294G>A	NP_060106.2:p.Ala432Thr
	NM_001195227.1:c.1294G>A	NP_001182156.1:p.Ala432Thr
Ensemble	ENST00000252826.10:c.1294G>A	ENST00000252826.10:p.Ala432Thr
	ENST00000427978.6:c.1294G>A	ENST00000427978.6:p.Ala432Thr

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

TRPM4

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	COSM1395204	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2024-01-30	criteria provided, conflicting interpretations	progressive familial heart block type IB	germline	Detail
Uncertain significance	2015-05-21	criteria provided, single submitter	Brugada syndrome	germline	Detail
Uncertain significance	2019-05-28	criteria provided, single submitter	Progressive familial heart block, type 1A	unknown	Detail
Likely benign	2020-03-31	criteria provided, single submitter	not provided	germline	Detail
Benign	2018-12-03	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	Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patien...	UNIPROT	21887725	Detail
0.360	Progressive Familial Heart Block, Type Ib	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) AND Progressive familial heart block type IB	ClinVar	Detail
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) AND Brugada syndrome	ClinVar	Detail
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) AND Progressive familial heart block, type 1A	ClinVar	Detail
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) AND not provided	ClinVar	Detail
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) AND Cardiovascular phenotype	ClinVar	Detail
Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac cond...	DisGeNET	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: rs201907325 dbSNP
Genome: hg19
Position: chr19:49,685,865-49,685,865
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8624
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): 120526
Allele Counts in All Race (ExAC): 60
Heterozygous Counts in All Race (ExAC): 60
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.978178982128338E-4

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