chr20:44651574:C>G Detail (hg38) (ADA, LOC107303343)

Information

Genome

Assembly Position
hg19 chr20:43,280,215-43,280,215 View the variant detail on this assembly version.
hg38 chr20:44,651,574-44,651,574

HGVS

Type Transcript Protein
RefSeq NM_000022.3:c.33+1G>C
NM_001322050.1:c.33+1G>C
NM_001322051.1:c.33+1G>C
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 608958 OMIM
HGNC 186 HGNC
Ensembl ENSG00000196839 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 1994-01-01 no assertion criteria provided Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.324 SCID Due to ADA Deficiency, Early-Onset NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000022.4(ADA):c.33+1G>C AND Severe combined immunodeficiency, autosomal recessive, T cell-negativ... ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587776534 dbSNP
Genome
hg38
Position
chr20:44,651,574-44,651,574
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser