chr2:70454954:T>A Detail (hg19) (TIA1)

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

Information

Genome

Assembly	Position
hg19	chr2:70,454,954-70,454,954
hg38	chr2:70,227,822-70,227,822 View the variant detail on this assembly version.

HGVS

TIA1

Type	Transcript	Protein
RefSeq	NM_022037.2:c.278A>T	NP_071320.2:p.Asn93Ile
	NM_022173.2:c.311A>T	NP_071505.2:p.Asp104Val
Ensemble	ENST00000282574.8:c.311A>T	ENST00000282574.8:p.Asp104Val
	ENST00000415783.6:c.278A>T	ENST00000415783.6:p.Asn93Ile
	ENST00000416149.6:c.311A>T	ENST00000416149.6:p.Asp104Val
	ENST00000433529.7:c.311A>T	ENST00000433529.7:p.Asp104Val
	ENST00000445587.5:c.278A>T	ENST00000445587.5:p.Asn93Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

TIA1

Type	Database	ID	Link
Gene	MIM	603518	OMIM
	HGNC	11802	HGNC
	Ensembl	ENSG00000116001	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
Uncertain significance	2019-06-26	criteria provided, single submitter	Welander distal myopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_022173.4(TIA1):c.311A>T (p.Asp104Val) AND Welander distal myopathy	ClinVar	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: rs143209672 dbSNP
Genome: hg19
Position: chr2:70,454,954-70,454,954
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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