chr15:40695367:G>T Detail (hg38) (RAD51, LOC130056864)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr15:40,987,565-40,987,565 View the variant detail on this assembly version. |
hg38 | chr15:40,695,367-40,695,367 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_002875.4:c.-61G>T | |
NM_001164269.1:c.-3+46G>T | ||
NM_001164270.1:c.-61G>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.034 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2018-06-22 | criteria provided, single submitter | not provided |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Non-small cell lung carcinoma | We genotyped six potentially functional single nucleotide polymorphisms (SNPs) (... | BeFree | 21647442 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_002875.5(RAD51):c.-61G>T AND not provided | ClinVar | Detail |
We genotyped six potentially functional single nucleotide polymorphisms (SNPs) (i.e., RAD51 -135G>... | 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
- rs1801321 dbSNP
- Genome
- hg38
- Position
- chr15:40,695,367-40,695,367
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- 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))
- rs1801321
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.034
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 570
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser