chr12:101761280:GGCA> Detail (hg38) (GNPTAB)

Information

Genome

Assembly Position
hg19 chr12:102,155,058-102,155,061 
hg38 chr12:101,761,280-101,761,283

HGVS

Type Transcript Protein
RefSeq NM_024312.4:c.2979_2982delTGCC NP_077288.2:p.Ala994SerfsTer8
Ensemble ENST00000299314.12:c.2979_2982delTGCC ENST00000299314.12:p.Ala994SerfsTer8
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
Pathogenic 2019-05-31 no assertion criteria provided Pseudo-Hurler polydystrophy inherited Detail
Pathogenic 2023-05-01 criteria provided, single submitter Pseudo-Hurler polydystrophy,Mucolipidosis type II germline Detail
Pathogenic 2023-05-01 criteria provided, single submitter Pseudo-Hurler polydystrophy,Mucolipidosis type II germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_024312.5(GNPTAB):c.[2715+1G>A;2980_2983del] AND Pseudo-Hurler polydystrophy ClinVar Detail
NM_024312.5(GNPTAB):c.2980_2983del (p.Ala994fs) AND multiple conditions ClinVar Detail
NM_024312.5(GNPTAB):c.2980_2983del (p.Ala994fs) AND multiple conditions ClinVar 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
rs1952989025 dbSNP
Genome
hg38
Position
chr12:101,761,280-101,761,283
Variant Type
snv
Reference Allele
GGCA
Alternative Allele
-
Genome browser