chr12:101770484:AT> Detail (hg38) (GNPTAB)

Information

Genome

Assembly Position
hg19 chr12:102,164,262-102,164,263 
hg38 chr12:101,770,484-101,770,485

HGVS

Type Transcript Protein
RefSeq NM_024312.4:c.1034_1035delAT NP_077288.2:p.Ile346PhefsTer15
Ensemble ENST00000299314.12:c.1034_1035delAT ENST00000299314.12:p.Ile346PhefsTer15
ENST00000549940.5:c.1034_1035delAT ENST00000549940.5:p.Ile346PhefsTer15
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.441 MUCOLIPIDOSIS II ALPHA/BETA (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs398124396 dbSNP
Genome
hg38
Position
chr12:101,770,484-101,770,485
Variant Type
snv
Reference Allele
AT
Alternative Allele
-
Genome browser