chr12:102161940:T>C Detail (hg19) (GNPTAB)

Information

Genome

Assembly Position
hg19 chr12:102,161,940-102,161,940
hg38 chr12:101,768,162-101,768,162 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_024312.4:c.1285-2A>G
Ensemble ENST00000299314.12:c.1285-2A>G
ENST00000549940.5:c.1285-2A>G
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 Pseudo-Hurler polydystrophy unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.480 Pseudo-Hurler polydystrophy NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_024312.5(GNPTAB):c.1285-2A>G AND Pseudo-Hurler polydystrophy ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs281864974 dbSNP
Genome
hg19
Position
chr12:102,161,940-102,161,940
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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