chr12:101764201:C>T Detail (hg38) (GNPTAB)

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

Information

Genome

Assembly	Position
hg19	chr12:102,157,979-102,157,979 View the variant detail on this assembly version.
hg38	chr12:101,764,201-101,764,201

HGVS

GNPTAB

Type	Transcript	Protein
RefSeq	NM_024312.4:c.2715+1G>A
Ensemble	ENST00000299314.12:c.2715+1G>A

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
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
Review star
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	tgv47015921	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	unknown	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2012-05-10	no assertion criteria provided	Pseudo-Hurler polydystrophy	germline not provided	Detail
Pathogenic	2023-12-26	criteria provided, multiple submitters, no conflicts	Pseudo-Hurler polydystrophy,Mucolipidosis type II	germline unknown	Detail
Pathogenic	2023-12-26	criteria provided, multiple submitters, no conflicts	Pseudo-Hurler polydystrophy,Mucolipidosis type II	germline unknown	Detail
Pathogenic	2019-02-18	criteria provided, single submitter	mucolipidosis	germline inherited	Detail
Pathogenic	2020-09-16	no assertion criteria provided	Mucolipidosis type II	germline	Detail
Pathogenic	2019-05-31	no assertion criteria provided	Pseudo-Hurler polydystrophy	inherited	Detail
Pathogenic		no assertion criteria provided	not provided	germline	Detail
Pathogenic	2019-02-25	criteria provided, single submitter	GNPTAB-related disorder	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.480	Pseudo-Hurler polydystrophy	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_024312.5(GNPTAB):c.2715+1G>A AND Pseudo-Hurler polydystrophy	ClinVar	Detail
NM_024312.5(GNPTAB):c.2715+1G>A AND multiple conditions	ClinVar	Detail
NM_024312.5(GNPTAB):c.2715+1G>A AND multiple conditions	ClinVar	Detail
NM_024312.5(GNPTAB):c.2715+1G>A AND Mucolipidosis	ClinVar	Detail
NM_024312.5(GNPTAB):c.2715+1G>A AND Mucolipidosis type II	ClinVar	Detail
NM_024312.5(GNPTAB):c.[2715+1G>A;2980_2983del] AND Pseudo-Hurler polydystrophy	ClinVar	Detail
NM_024312.5(GNPTAB):c.2715+1G>A AND not provided	ClinVar	Detail
NM_024312.5(GNPTAB):c.2715+1G>A AND GNPTAB-related disorder	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs281865031 dbSNP
Genome: hg38
Position: chr12:101,764,201-101,764,201
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): 121368
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): 2.471821237888076E-5

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