chr14:24255450:T>C Detail (hg38) (TGM1)

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

Information

Genome

Assembly	Position
hg19	chr14:24,724,656-24,724,656 View the variant detail on this assembly version.
hg38	chr14:24,255,450-24,255,450

HGVS

TGM1

Type	Transcript	Protein
RefSeq	NM_000359.2:c.1559A>G	NP_000350.1:p.Glu520Gly
Ensemble	ENST00000206765.11:c.1559A>G	ENST00000206765.11:p.Glu520Gly
	ENST00000544573.5:c.233A>G	ENST00000544573.5:p.Glu78Gly

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

TGM1

Type	Database	ID	Link
Gene	MIM	190195	OMIM
	HGNC	11777	HGNC
	Ensembl	ENSG00000092295	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv386577978	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign Likely benign	2024-01-31	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Conflicting interpretations of pathogenicity	2018-08-07	criteria provided, conflicting interpretations	autosomal recessive congenital ichthyosis 1	germline inherited	Detail
Benign	2022-05-21	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2019-07-16	criteria provided, single submitter	TGM1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.325	Congenital ichthyosis	Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: ...	UNIPROT	19241467	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) AND not provided	ClinVar	Detail
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) AND Autosomal recessive congenital ichthyosis 1	ClinVar	Detail
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) AND not specified	ClinVar	Detail
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) AND TGM1-related disorder	ClinVar	Detail
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations...	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: rs142404759 dbSNP
Genome: hg38
Position: chr14:24,255,450-24,255,450
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1555350127108852E-4
Chromosome Counts in All Race (ExAC): 121208
Allele Counts in All Race (ExAC): 687
Heterozygous Counts in All Race (ExAC): 679
Homozygous Counts in All Race (ExAC): 4
Allele Frequency in All Race (ExAC): 0.005667942710052142

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