chr14:24258646:C>T Detail (hg38) (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	chr14:24,727,852-24,727,852 View the variant detail on this assembly version.
hg38	chr14:24,258,646-24,258,646

HGVS

TGM1

Type	Transcript	Protein
RefSeq	NM_000359.2:c.1187G>A	NP_000350.1:p.Arg396His
Ensemble	ENST00000206765.11:c.1187G>A	ENST00000206765.11:p.Arg396His
	ENST00000544573.5:c.-28-258G>A

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	Pathogenic Likely pathogenic
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	tgv223899919	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2023-07-24	criteria provided, multiple submitters, no conflicts	autosomal recessive congenital ichthyosis 1	germline unknown	Detail
Pathogenic	2024-01-11	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Ichthyosis Congenita II	NA	CLINVAR		Detail
0.325	Congenital ichthyosis	Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: priva...	UNIPROT	9326318	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) AND Autosomal recessive congenital ichthyosis 1	ClinVar	Detail
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mut...	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: rs121918721 dbSNP
Genome: hg38
Position: chr14:24,258,646-24,258,646
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8650
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1560693641618497E-4
Chromosome Counts in All Race (ExAC): 121086
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.4775779198255786E-5

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