chr12:101764954:G> Detail (hg38) (GNPTAB)

Information

Genome

Assembly Position
hg19 chr12:102,158,732-102,158,732 
hg38 chr12:101,764,954-101,764,954

HGVS

Type Transcript Protein
RefSeq NM_024312.4:c.1963delC NP_077288.2:p.Ile656Ter
Ensemble ENST00000299314.12:c.1963delC ENST00000299314.12:p.Ile656Ter
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 2023-03-21 criteria provided, single submitter Mucolipidosis type II,Pseudo-Hurler polydystrophy germline Detail
Pathogenic 2023-03-21 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.1965del (p.Pro655_Ile656insTer) AND Mucolipidosis type II ClinVar Detail
NM_024312.5(GNPTAB):c.1965del (p.Pro655_Ile656insTer) AND multiple conditions ClinVar Detail
NM_024312.5(GNPTAB):c.1965del (p.Pro655_Ile656insTer) 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
rs281864984 dbSNP
Genome
hg38
Position
chr12:101,764,954-101,764,954
Variant Type
snv
Reference Allele
G
Alternative Allele
-
Genome browser