chr20:43248492:CTCGTTGGTTC> Detail (hg19) (ADA, PKIG)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr20:43,248,492-43,248,502 |
hg38 | chr20:44,619,851-44,619,861 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000022.3:c.1079-14_1079-4delGAACCAACGAG | |
NM_001322050.1:c.1079-14_1079-4delGAACCAACGAG | ||
NM_001322051.1:c.1079-14_1079-4delGAACCAACGAG |
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000372887.5:c.152-4082_152-4072delCTCGTTGGTTC |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance | no classification for the single variant |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2002-02-01 | no assertion criteria provided | SCID due to ADA deficiency, delayed onset |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000022.4(ADA):c.[1079-14_1079-4del;1079-15T>A] AND SCID due to ADA deficiency, delayed onset | ClinVar | 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
- rs2123505581 dbSNP
- Genome
- hg19
- Position
- chr20:43,248,492-43,248,502
- Variant Type
- snv
- Reference Allele
- CTCGTTGGTTC
- Alternative Allele
- -
Genome browser