chr12:101796724:CAAA> Detail (hg38) (GNPTAB)

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

Genome

Assembly	Position
hg19	chr12:102,190,502-102,190,505
hg38	chr12:101,796,724-101,796,727

HGVS

GNPTAB

Type	Transcript	Protein
RefSeq	NM_024312.4:c.153_156delTTTG	NP_077288.2:p.Phe53IlefsTer29
Ensemble	ENST00000299314.12:c.153_156delTTTG	ENST00000299314.12:p.Phe53IlefsTer29
	ENST00000392919.4:c.153_156delTTTG	ENST00000392919.4:p.Phe53IlefsTer17
	ENST00000549165.1:c.153_156delTTTG	ENST00000549165.1:p.Phe53IlefsTer32
	ENST00000549940.5:c.153_156delTTTG	ENST00000549940.5:p.Phe53IlefsTer29

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

GNPTAB

Type	Database	ID	Link
Gene	MIM	607840	OMIM
	HGNC	29670	HGNC
	Ensembl	ENSG00000111670	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	MUCOLIPIDOSIS II ALPHA/BETA (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs794727302 dbSNP
Genome: hg38
Position: chr12:101,796,724-101,796,727
Variant Type: snv
Reference Allele: CAAA
Alternative Allele: -

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