chr20:43251694:C>T Detail (hg19) (ADA, PKIG)

Information

Genome

Assembly Position
hg19 chr20:43,251,694-43,251,694
hg38 chr20:44,623,053-44,623,053 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000022.3:c.632G>A NP_000013.2:p.Arg211His
NM_001322050.1:c.632G>A NP_001308979.1:p.Arg211His
NM_001322051.1:c.632G>A NP_001308980.1:p.Arg211His
Type Transcript Protein
RefSeq
Ensemble ENST00000372887.5:c.152-880C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 tgv63825604 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 604932 OMIM
HGNC 9019 HGNC
Ensembl ENSG00000168734 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv63825604 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-11-14 reviewed by expert panel Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency germline unknown Detail
Pathogenic 2018-03-08 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.324 SCID Due to ADA Deficiency, Early-Onset NA CLINVAR Detail
0.324 SCID Due to ADA Deficiency, Early-Onset Mutant human adenosine deaminase alleles and their expression by transfection in... UNIPROT 3182793 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000022.4(ADA):c.632G>A (p.Arg211His) AND Severe combined immunodeficiency, autosomal recessive, T... ClinVar Detail
NM_000022.4(ADA):c.632G>A (p.Arg211His) AND not provided ClinVar Detail
NA DisGeNET Detail
Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. 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
rs121908716 dbSNP
Genome
hg19
Position
chr20:43,251,694-43,251,694
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs121908716
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121106
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.6057833633346E-5
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