chr2:74166018:C>T Detail (hg19) (DGUOK)

Information

Genome

Assembly Position
hg19 chr2:74,166,018-74,166,018
hg38 chr2:73,938,891-73,938,891 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001318860.1:c.143-19C>T
NM_001318861.1:c.143-19C>T
NM_001318862.1:c.143-19C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601465 OMIM
HGNC 2858 HGNC
Ensembl ENSG00000114956 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
Likely benign 2023-02-20 criteria provided, single submitter DGUOK-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_080916.3(DGUOK):c.143-19C>T AND DGUOK-related disorder ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr2:74,166,018-74,166,018
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser