chr8:48762060:A>G Detail (hg19) (PRKDC)

Information

Genome

Assembly Position
hg19 chr8:48,762,060-48,762,060
hg38 chr8:47,849,499-47,849,499 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006904.6:c.7009T>C NP_008835.5:p.Trp2337Arg
NM_001081640.1:c.7009T>C NP_001075109.1:p.Trp2337Arg
Ensemble ENST00000314191.7:c.7009T>C ENST00000314191.7:p.Trp2337Arg
Summary

MGeND

Clinical significance not provided
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 600899 OMIM
HGNC 9413 HGNC
Ensembl ENSG00000253729 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided 2018/08/18 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
not provided 2018/08/18 polyp of stomach and duodenum germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
not provided 2018/08/18 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-12-06 criteria provided, single submitter Severe combined immunodeficiency due to DNA-PKcs deficiency germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_006904.7(PRKDC):c.7010T>C (p.Leu2337Pro) AND Severe combined immunodeficiency due to DNA-PKcs def... 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
rs375706148 dbSNP
Genome
hg19
Position
chr8:48,762,060-48,762,060
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8344
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)
118140
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)
6.771626883358727E-5
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