chr12:101761613:G>T Detail (hg38) (GNPTAB)

Information

Genome

Assembly Position
hg19 chr12:102,155,391-102,155,391 View the variant detail on this assembly version.
hg38 chr12:101,761,613-101,761,613

HGVS

Type Transcript Protein
RefSeq NM_024312.4:c.2866C>A NP_077288.2:p.His956Asn
Ensemble ENST00000299314.12:c.2866C>A ENST00000299314.12:p.His956Asn
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
0.480 Pseudo-Hurler polydystrophy 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
rs281865004 dbSNP
Genome
hg38
Position
chr12:101,761,613-101,761,613
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser