chr12:102190542:T>C Detail (hg19) (GNPTAB)

Information

Genome

Assembly Position
hg19 chr12:102,190,542-102,190,542
hg38 chr12:101,796,764-101,796,764 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_024312.4:c.118-2A>G
Ensemble ENST00000392919.4:c.118-2A>G
ENST00000299314.12:c.118-2A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2012-05-10 no assertion criteria provided Mucolipidosis type II not provided Detail
Pathogenic 2021-11-14 criteria provided, single submitter Pseudo-Hurler polydystrophy,Mucolipidosis type II germline Detail
Pathogenic 2021-11-14 criteria provided, single submitter Pseudo-Hurler polydystrophy,Mucolipidosis type II germline Detail
Likely pathogenic 2021-11-17 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.118-2A>G AND Mucolipidosis type II ClinVar Detail
NM_024312.5(GNPTAB):c.118-2A>G AND multiple conditions ClinVar Detail
NM_024312.5(GNPTAB):c.118-2A>G AND multiple conditions ClinVar Detail
NM_024312.5(GNPTAB):c.118-2A>G AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs281865023 dbSNP
Genome
hg19
Position
chr12:102,190,542-102,190,542
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser