chr12:102147226:ACATGGA> Detail (hg19) (GNPTAB)

Information

Genome

Assembly Position
hg19 chr12:102,147,226-102,147,232
hg38 chr12:101,753,448-101,753,454 

HGVS

Type Transcript Protein
RefSeq NM_024312.4:c.3520_3526delTCCATGT NP_077288.2:p.Met1175ProfsTer32
Ensemble ENST00000299314.12:c.3520_3526delTCCATGT ENST00000299314.12:p.Met1175ProfsTer32
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
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.3523_3529del (p.Met1175fs) AND Mucolipidosis type II 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
rs281865021 dbSNP
Genome
hg19
Position
chr12:102,147,226-102,147,232
Variant Type
snv
Reference Allele
ACATGGA
Alternative Allele
-
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