chr5:83111054:G>A Detail (hg38) (XRCC4)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr5:82,406,873-82,406,873 View the variant detail on this assembly version.
hg38	chr5:83,111,054-83,111,054

HGVS

XRCC4

Type	Transcript	Protein
RefSeq	NM_022550.3:c.166G>A	NP_072044.1:p.Ala56Thr
	NM_001318012.1:c.166G>A	NP_001304941.1:p.Ala56Thr
	NM_003401.4:c.166G>A	NP_003392.1:p.Ala56Thr
	NM_022406.3:c.166G>A	NP_071801.1:p.Ala56Thr
Ensemble	ENST00000282268.7:c.166G>A	ENST00000282268.7:p.Ala56Thr
	ENST00000338635.10:c.166G>A	ENST00000338635.10:p.Ala56Thr
	ENST00000396027.9:c.166G>A	ENST00000396027.9:p.Ala56Thr
	ENST00000511817.1:c.166G>A	ENST00000511817.1:p.Ala56Thr

Summary

MGeND

Clinical significance
Variant entry
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

XRCC4

Type	Database	ID	Link
Gene	MIM	194363	OMIM
	HGNC	12831	HGNC
	Ensembl	ENSG00000152422	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv335734301	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2022-10-13	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2022-03-29	criteria provided, single submitter	Short stature, microcephaly, and endocrine dysfunction	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.008	liver carcinoma	In this study, we investigated whether six polymorphisms (including rs25487, rs8...	BeFree	25337275	Detail
<0.001	liver carcinoma	Genetic polymorphisms in the coding region of XRCC4 may be risk and prognostic b...	BeFree	23390017	Detail

Annotation

Annotations

Descrption	Source	Links
NM_003401.5(XRCC4):c.166G>A (p.Ala56Thr) AND not provided	ClinVar	Detail
NM_003401.5(XRCC4):c.166G>A (p.Ala56Thr) AND Short stature, microcephaly, and endocrine dysfunction	ClinVar	Detail
In this study, we investigated whether six polymorphisms (including rs25487, rs861539, rs7003908, rs...	DisGeNET	Detail
Genetic polymorphisms in the coding region of XRCC4 may be risk and prognostic biomarkers of AFB1-re...	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: rs28383151 dbSNP
Genome: hg38
Position: chr5:83,111,054-83,111,054
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8394
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): 117190
Allele Counts in All Race (ExAC): 48
Heterozygous Counts in All Race (ExAC): 48
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.095912620530762E-4

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