chr12:102190522:G>A Detail (hg19) (GNPTAB)

Information

Genome

Assembly Position
hg19 chr12:102,190,522-102,190,522
hg38 chr12:101,796,744-101,796,744 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_024312.4:c.136C>T NP_077288.2:p.Arg46Ter
Ensemble ENST00000549165.1:c.136C>T ENST00000549165.1:p.Arg46Ter
ENST00000392919.4:c.136C>T ENST00000392919.4:p.Arg46Ter
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
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
COSMIC COSM1322055 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-03-14 criteria provided, multiple submitters, no conflicts Mucolipidosis type II germline unknown Detail
Pathogenic 2023-01-13 criteria provided, multiple submitters, no conflicts Pseudo-Hurler polydystrophy,Mucolipidosis type II germline unknown Detail
Pathogenic 2023-01-13 criteria provided, multiple submitters, no conflicts Pseudo-Hurler polydystrophy,Mucolipidosis type II germline unknown Detail
Pathogenic 2023-09-17 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 MUCOLIPIDOSIS II ALPHA/BETA (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) AND Mucolipidosis type II ClinVar Detail
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) AND multiple conditions ClinVar Detail
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) AND multiple conditions ClinVar Detail
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) AND not provided 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
rs78347057 dbSNP
Genome
hg19
Position
chr12:102,190,522-102,190,522
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8626
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)
121306
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)
8.243615319934711E-6
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