chr12:102179792:T>A Detail (hg19) (GNPTAB)

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

Information

Genome

Assembly	Position
hg19	chr12:102,179,792-102,179,792
hg38	chr12:101,786,014-101,786,014 View the variant detail on this assembly version.

HGVS

GNPTAB

Type	Transcript	Protein
RefSeq	NM_024312.4:c.569A>T	NP_077288.2:p.Asp190Val
Ensemble	ENST00000299314.12:c.569A>T	ENST00000299314.12:p.Asp190Val
	ENST00000549940.5:c.569A>T	ENST00000549940.5:p.Asp190Val

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	Pathogenic Likely 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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2012-05-10	no assertion criteria provided	Mucopolysaccharidosis, MPS-III-A	not provided	Detail
Pathogenic	2023-10-03	criteria provided, single submitter	Mucolipidosis type II,Pseudo-Hurler polydystrophy	germline	Detail
Pathogenic	2023-10-03	criteria provided, single submitter	Mucolipidosis type II,Pseudo-Hurler polydystrophy	germline	Detail
Likely pathogenic	2021-10-01	criteria provided, single submitter	Mucolipidosis type II	germline maternal	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	mucopolysaccharidosis type IIIA	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) AND Mucopolysaccharidosis, MPS-III-A	ClinVar	Detail
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) AND multiple conditions	ClinVar	Detail
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) AND multiple conditions	ClinVar	Detail
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) 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: rs34946266 dbSNP
Genome: hg19
Position: chr12:102,179,792-102,179,792
Variant Type: snv
Reference Allele: T
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8384
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 117870
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.483922965979469E-6

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