chr12:101830666:T>G Detail (hg38) (GNPTAB)

Information

Genome

Assembly Position
hg19 chr12:102,224,444-102,224,444 View the variant detail on this assembly version.
hg38 chr12:101,830,666-101,830,666

HGVS

Type Transcript Protein
RefSeq NM_024312.4:c.10A>C NP_077288.2:p.Lys4Gln
Ensemble ENST00000299314.12:c.10A>C ENST00000299314.12:p.Lys4Gln
ENST00000392919.4:c.10A>C ENST00000392919.4:p.Lys4Gln
Summary

MGeND

Clinical significance Likely 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 Likely pathogenic
Review star
Show details
Links
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 tgv380834390 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic other unknown MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2006-03-01 no assertion criteria provided Pseudo-Hurler polydystrophy germline Detail
Pathogenic 2012-05-10 no assertion criteria provided Mucopolysaccharidosis, MPS-III-A not provided Detail
Pathogenic Likely pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts Mucolipidosis type II,Pseudo-Hurler polydystrophy germline unknown Detail
Pathogenic Likely pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts Mucolipidosis type II,Pseudo-Hurler polydystrophy germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Pseudo-Hurler polydystrophy NA CLINVAR Detail
0.120 mucopolysaccharidosis type IIIA NA CLINVAR Detail
0.480 Pseudo-Hurler polydystrophy Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurle... UNIPROT 16465621 Detail
0.017 Mucolipidoses The GNPTAB c.10A&gt;C/p.K4Q missense allele results in an intermediate ML II/III... BeFree 24045841 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) AND Pseudo-Hurler polydystrophy ClinVar Detail
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) AND Mucopolysaccharidosis, MPS-III-A ClinVar Detail
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) AND multiple conditions ClinVar Detail
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are... DisGeNET Detail
The GNPTAB c.10A&gt;C/p.K4Q missense allele results in an intermediate ML II/III with distinct clini... 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
rs34159654 dbSNP
Genome
hg38
Position
chr12:101,830,666-101,830,666
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8186
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)
113324
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)
2.6472768345628464E-5
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