chr12:101761171:G>A Detail (hg38) (GNPTAB)

Information

Genome

Assembly Position
hg19 chr12:102,154,949-102,154,949 View the variant detail on this assembly version.
hg38 chr12:101,761,171-101,761,171

HGVS

Type Transcript Protein
RefSeq NM_024312.4:c.3091C>T NP_077288.2:p.Arg1031Ter
Ensemble ENST00000299314.12:c.3091C>T ENST00000299314.12:p.Arg1031Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 tgv220991105 TogoVar
COSMIC COSM2063606 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-09-16 no assertion criteria provided Mucolipidosis type II germline unknown Detail
Pathogenic 2023-11-08 criteria provided, multiple submitters, no conflicts Pseudo-Hurler polydystrophy,Mucolipidosis type II germline unknown Detail
Pathogenic 2023-11-08 criteria provided, multiple submitters, no conflicts Pseudo-Hurler polydystrophy,Mucolipidosis type II germline unknown Detail
Pathogenic 2017-09-08 criteria provided, single submitter mucolipidosis germline Detail
Pathogenic 2021-09-02 criteria provided, single submitter Pseudo-Hurler polydystrophy 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.3091C>T (p.Arg1031Ter) AND Mucolipidosis type II ClinVar Detail
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) AND multiple conditions ClinVar Detail
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) AND multiple conditions ClinVar Detail
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) AND Mucolipidosis ClinVar Detail
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) AND Pseudo-Hurler polydystrophy 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
rs281865009 dbSNP
Genome
hg38
Position
chr12:101,761,171-101,761,171
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser