chr9:131870304:C>T Detail (hg19) (CRAT)

Information

Genome

Assembly Position
hg19 chr9:131,870,304-131,870,304
hg38 chr9:129,108,025-129,108,025 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000755.3:c.80G>A NP_000746.2:p.Arg27His
NM_001257363.1:c.80G>A NP_001244292.1:p.Arg27His
Ensemble ENST00000318080.7:c.80G>A ENST00000318080.7:p.Arg27His
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 Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 600184 OMIM
HGNC 2342 HGNC
Ensembl ENSG00000095321 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37733039 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2021-09-24 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Elliptocytosis, Hereditary Hereditary pyropoikilocytosis and elliptocytosis in a white French family with t... BeFree 2328319 Detail
<0.001 Elliptocytosis, Hereditary Hereditary pyropoikilocytosis and elliptocytosis in a white French family with t... BeFree 2328319 Detail
<0.001 melanoma In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24H... BeFree 15880589 Detail
<0.001 melanoma In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24H... BeFree 15880589 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000755.5(CRAT):c.80G>A (p.Arg27His) AND not provided ClinVar Detail
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/... DisGeNET Detail
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/... DisGeNET Detail
In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusuall... DisGeNET Detail
In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusuall... 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
rs200033105 dbSNP
Genome
hg19
Position
chr9:131,870,304-131,870,304
Variant Type
snv
Reference Allele
C
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))
rs200033105
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0012
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
20
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
8372
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
4.7778308647873863E-4
Chromosome Counts in All Race (ExAC)
109390
Allele Counts in All Race (ExAC)
14
Heterozygous Counts in All Race (ExAC)
14
Allele Frequency in All Race (ExAC)
1.2798244812140048E-4
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