chr14:104174123:T>C Detail (hg19) (KLC1, XRCC3)

Information

Genome

Assembly Position
hg19 chr14:104,174,123-104,174,123
hg38 chr14:103,707,786-103,707,786 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000348520.10:c.*6587T>C
Type Transcript Protein
RefSeq NM_001100118.1:c.194-571A>G
NM_001100119.1:c.194-571A>G
NM_005432.3:c.194-571A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.459
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv52046679 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 tgv52046679 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 stomach carcinoma In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... BeFree 21347786 Detail
0.003 Malignant neoplasm of esophagus In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... BeFree 21347786 Detail
0.007 Malignant neoplasm of stomach In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... BeFree 21347786 Detail
0.127 Esophageal Neoplasms In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... BeFree 21347786 Detail
<0.001 esophageal carcinoma In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02)... BeFree 21347786 Detail
Annotation

Annotations

DescrptionSourceLinks
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... DisGeNET Detail
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... DisGeNET Detail
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... DisGeNET Detail
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... DisGeNET Detail
In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cance... 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
rs861530 dbSNP
Genome
hg19
Position
chr14:104,174,123-104,174,123
Variant Type
snv
Reference Allele
T
Alternative Allele
C
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs861530
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4588
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7690
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser