chr20:43255157:C>T Detail (hg19) (ADA)

Information

Genome

Assembly Position
hg19 chr20:43,255,157-43,255,157
hg38 chr20:44,626,516-44,626,516 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000022.3:c.302G>A NP_000013.2:p.Arg101Gln
NM_001322050.1:c.302G>A NP_001308979.1:p.Arg101Gln
NM_001322051.1:c.302G>A NP_001308980.1:p.Arg101Gln
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:[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 tgv63825815 TogoVar
COSMIC COSM5857953 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-11-17 criteria provided, multiple submitters, no conflicts Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency germline unknown Detail
Pathogenic 2017-07-12 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-05-16 criteria provided, single submitter Severe combined immunodeficiency disease 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
Annotation

Annotations

DescrptionSourceLinks
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) AND Severe combined immunodeficiency, autosomal recessive, T... ClinVar Detail
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) AND not provided ClinVar Detail
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) AND Severe combined immunodeficiency disease ClinVar Detail
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
rs121908714 dbSNP
Genome
hg19
Position
chr20:43,255,157-43,255,157
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))
rs121908714
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
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