chr1:33479004:>GT Detail (hg19) (AK2)

Information

Genome

Assembly Position
hg19 chr1:33,479,004-33,479,004
hg38 chr1:33,013,403-33,013,403 

HGVS

Type Transcript Protein
RefSeq NM_001625.3:c.373-2_373-1insAC
NM_001319143.1:c.*2-2_*2-1insAC
NM_001319141.1:c.499-2_499-1insAC
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 103020 OMIM
HGNC 362 HGNC
Ensembl ENSG00000004455 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 pathogenic 2022-01-11 criteria provided, single submitter Severe combined immunodeficiency disease germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001625.4(AK2):c.498_499dup (p.Ile167fs) AND Severe combined immunodeficiency disease ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1638975235 dbSNP
Genome
hg19
Position
chr1:33,479,004-33,479,004
Variant Type
snv
Reference Allele
-
Alternative Allele
GT
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