chr12:102159967:C>T Detail (hg19) (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	chr12:102,159,967-102,159,967
hg38	chr12:101,766,189-101,766,189 View the variant detail on this assembly version.

HGVS

GNPTAB

Type	Transcript	Protein
RefSeq	NM_024312.4:c.1514G>A	NP_077288.2:p.Cys505Tyr
Ensemble	ENST00000299314.12:c.1514G>A	ENST00000299314.12:p.Cys505Tyr

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	2019-01-18	criteria provided, single submitter	Pseudo-Hurler polydystrophy	unknown	Detail
Likely pathogenic	2017-01-01	criteria provided, single submitter	Legg-Calve-Perthes disease,Juvenile osteochondrosis of spine	unknown	Detail
Likely pathogenic	2017-01-01	criteria provided, single submitter	Legg-Calve-Perthes disease,Juvenile osteochondrosis of spine	unknown	Detail
Pathogenic Likely pathogenic	2023-10-17	criteria provided, multiple submitters, no conflicts	Pseudo-Hurler polydystrophy,Mucolipidosis type II	germline unknown	Detail
Pathogenic Likely pathogenic	2023-10-17	criteria provided, multiple submitters, no conflicts	Pseudo-Hurler polydystrophy,Mucolipidosis type II	germline 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.1514G>A (p.Cys505Tyr) AND Pseudo-Hurler polydystrophy	ClinVar	Detail
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) AND multiple conditions	ClinVar	Detail
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) AND multiple conditions	ClinVar	Detail
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) AND multiple conditions	ClinVar	Detail
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) AND multiple conditions	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: rs281864980 dbSNP
Genome: hg19
Position: chr12:102,159,967-102,159,967
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
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): 121404
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): 2.471088267272907E-5

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