chr12:101796709:T> 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	chr12:102,190,487-102,190,487
hg38	chr12:101,796,709-101,796,709

HGVS

GNPTAB

Type	Transcript	Protein
RefSeq	NM_024312.4:c.171delA	NP_077288.2:p.Asp58ThrfsTer25
Ensemble	ENST00000299314.12:c.171delA	ENST00000299314.12:p.Asp58ThrfsTer25
	ENST00000392919.4:c.171delA	ENST00000392919.4:p.Asp58ThrfsTer13
	ENST00000549165.1:c.171delA	ENST00000549165.1:p.Asp58ThrfsTer28
	ENST00000549940.5:c.171delA	ENST00000549940.5:p.Asp58ThrfsTer25

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
Review star
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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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Mucolipidosis type II	unknown	Detail

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
NM_024312.5(GNPTAB):c.171del (p.Asp58fs) AND Mucolipidosis type II	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: rs281864951 dbSNP
Genome: hg38
Position: chr12:101,796,709-101,796,709
Variant Type: snv
Reference Allele: T
Alternative Allele: -

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