chr12:57751596:T>C Detail (hg38) (CDK4, LOC130008148)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:58,145,379-58,145,379 View the variant detail on this assembly version. |
hg38 | chr12:57,751,596-57,751,596 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000075.3:c.122A>G | NP_000066.1:p.Asn41Ser |
Ensemble | ENST00000257904.11:c.122A>G | ENST00000257904.11:p.Asn41Ser |
ENST00000312990.10:c.122A>G | ENST00000312990.10:p.Asn41Ser |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:<0.001 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance | Conflicting classifications of pathogenicity |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2024-01-31 | criteria provided, single submitter | familial melanoma |
![]() |
Detail |
![]() |
2023-04-10 | criteria provided, conflicting interpretations | not specified |
![]() |
Detail |
![]() |
2018-08-08 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
![]() |
Detail |
![]() |
2023-11-19 | criteria provided, conflicting interpretations | not provided |
![]() ![]() |
Detail |
![]() |
2023-11-07 | criteria provided, conflicting interpretations | Melanoma, cutaneous malignant, susceptibility to, 3 |
![]() ![]() |
Detail |
![]() |
2023-03-18 | criteria provided, single submitter | CDK4-related disorder |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND Familial melanoma | ClinVar | Detail |
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND not specified | ClinVar | Detail |
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND not provided | ClinVar | Detail |
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar | Detail |
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) AND CDK4-related disorder | ClinVar | 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
- rs144890720 dbSNP
- Genome
- hg38
- Position
- chr12:57,751,596-57,751,596
- 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))
- rs144890720
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121396
- Allele Counts in All Race (ExAC)
- 20
- Heterozygous Counts in All Race (ExAC)
- 20
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6475007413753337E-4
Genome browser