chr14:103699410:C>T Detail (hg38) (KLC1, XRCC3)

Information

Genome

Assembly Position
hg19 chr14:104,165,747-104,165,747 View the variant detail on this assembly version.
hg38 chr14:103,699,410-103,699,410

HGVS

Type Transcript Protein
RefSeq NM_001130107.1:c.1782-1245C>T
NM_182923.3:c.1624-1245C>T
Ensemble ENST00000334553.11:c.1849-1245C>T
Type Transcript Protein
RefSeq NM_001100118.1:c.728G>A NP_001093588.1:p.Arg243His
NM_001100119.1:c.728G>A NP_001093589.1:p.Arg243His
NM_005432.3:c.728G>A NP_005423.1:p.Arg243His
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 Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600025 OMIM
HGNC 6387 HGNC
Ensembl ENSG00000126214 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv389868848 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 600675 OMIM
HGNC 12830 HGNC
Ensembl ENSG00000126215 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv389868848 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-03-29 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Malignant tumor of cervix XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nu... BeFree 23539294 Detail
0.001 cervix carcinoma XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nu... BeFree 23539294 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005432.4(XRCC3):c.728G>A (p.Arg243His) AND not provided ClinVar Detail
XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nucleotide polymorphis... DisGeNET Detail
XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) single nucleotide polymorphis... 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
rs77381814 dbSNP
Genome
hg38
Position
chr14:103,699,410-103,699,410
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
7168
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)
101848
Allele Counts in All Race (ExAC)
212
Heterozygous Counts in All Race (ExAC)
208
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.0020815332652580317
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