chr14:24724176:ACAGGCC> Detail (hg19) (TGM1)

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

Genome

Assembly	Position
hg19	chr14:24,724,176-24,724,182
hg38	chr14:24,254,970-24,254,976

HGVS

TGM1

Type	Transcript	Protein
RefSeq	NM_000359.2:c.1923_1927+2delGGCCTGT	NP_000350.1:p.Ala642GlyfsTer65
Ensemble	ENST00000206765.11:c.1923_1927+2delGGCCTGT	ENST00000206765.11:p.Ala642GlyfsTer65
	ENST00000544573.5:c.597_601+2delGGCCTGT	ENST00000544573.5:p.Ala200GlyfsTer65

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-01-19	criteria provided, single submitter	autosomal recessive congenital ichthyosis 1	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Ichthyosis Congenita II	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000359.3(TGM1):c.1923_1927+2del AND Autosomal recessive congenital ichthyosis 1	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: rs398122902 dbSNP
Genome: hg19
Position: chr14:24,724,176-24,724,182
Variant Type: snv
Reference Allele: ACAGGCC
Alternative Allele: -

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