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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2018-03-29 | criteria provided, single submitter | not provided |
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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
Descrption | Source | Links |
---|---|---|
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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