chr12:102159962:G>A Detail (hg19) (GNPTAB)

Information

Genome

Assembly Position
hg19 chr12:102,159,962-102,159,962
hg38 chr12:101,766,184-101,766,184 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_024312.4:c.1519C>T NP_077288.2:p.Gln507Ter
Ensemble ENST00000299314.12:c.1519C>T ENST00000299314.12:p.Gln507Ter
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided no assertion provided Mucolipidosis type II unknown Detail
Pathogenic 2022-09-26 criteria provided, single submitter Mucolipidosis type II,Pseudo-Hurler polydystrophy germline Detail
Pathogenic 2022-09-26 criteria provided, single submitter Mucolipidosis type II,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.1519C>T (p.Gln507Ter) AND Mucolipidosis type II ClinVar Detail
NM_024312.5(GNPTAB):c.1519C>T (p.Gln507Ter) AND multiple conditions ClinVar Detail
NM_024312.5(GNPTAB):c.1519C>T (p.Gln507Ter) 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
rs281864981 dbSNP
Genome
hg19
Position
chr12:102,159,962-102,159,962
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser