chr14:24724663:C>T 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	chr14:24,724,663-24,724,663
hg38	chr14:24,255,457-24,255,457 View the variant detail on this assembly version.

HGVS

TGM1

Type	Transcript	Protein
RefSeq	NM_000359.2:c.1552G>A	NP_000350.1:p.Val518Met
Ensemble	ENST00000206765.11:c.1552G>A	ENST00000206765.11:p.Val518Met
	ENST00000544573.5:c.226G>A	ENST00000544573.5:p.Val76Met

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2019-05-28	criteria provided, conflicting interpretations	autosomal recessive congenital ichthyosis 1	germline unknown	Detail
Benign Likely benign	2021-12-10	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Benign	2024-02-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Ichthyosis Congenita II	NA	CLINVAR		Detail
0.006	Ichthyosiform Erythroderma, Congenital	These studies extend our prior work on TGM1-deficient LI to the full spectrum of...	BeFree	16133457	Detail
0.258	Congenital Nonbullous Ichthyosiform Erythroderma	These studies extend our prior work on TGM1-deficient LI to the full spectrum of...	BeFree	16133457	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) AND Autosomal recessive congenital ichthyosis 1	ClinVar	Detail
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) AND not specified	ClinVar	Detail
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
These studies extend our prior work on TGM1-deficient LI to the full spectrum of TGM1-deficient pati...	DisGeNET	Detail
These studies extend our prior work on TGM1-deficient LI to the full spectrum of TGM1-deficient pati...	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: rs35312232 dbSNP
Genome: hg19
Position: chr14:24,724,663-24,724,663
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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): 121200
Allele Counts in All Race (ExAC): 1261
Heterozygous Counts in All Race (ExAC): 1249
Homozygous Counts in All Race (ExAC): 6
Allele Frequency in All Race (ExAC): 0.010404290429042904

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