chr15:42730632:G>A Detail (hg38) (CDAN1)

Information

Genome

Assembly Position
hg19 chr15:43,022,830-43,022,830 View the variant detail on this assembly version.
hg38 chr15:42,730,632-42,730,632

HGVS

Type Transcript Protein
RefSeq NM_138477.2:c.2140C>T NP_612486.2:p.Arg714Trp
Ensemble ENST00000356231.4:c.2140C>T ENST00000356231.4:p.Arg714Trp
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 Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 607465 OMIM
HGNC 1713 HGNC
Ensembl ENSG00000140326 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52721300 TogoVar
COSMIC COSM4054744 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2017-09-06 criteria provided, single submitter Congenital dyserythropoietic anemia, type I germline Detail
Pathogenic Likely pathogenic 2023-01-23 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 Congenital dyserythropoietic anemia, type I This function is compromised by two CDAI mutations that impair complex formation... UNIPROT 22407294 Detail
0.362 Congenital dyserythropoietic anemia, type I NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) AND Congenital dyserythropoietic anemia, type I ClinVar Detail
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp) AND not provided ClinVar Detail
This function is compromised by two CDAI mutations that impair complex formation with Asf1, providin... DisGeNET Detail
NA 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
rs80338696 dbSNP
Genome
hg38
Position
chr15:42,730,632-42,730,632
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs80338696
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)
8612
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3223409196470042E-4
Chromosome Counts in All Race (ExAC)
119894
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.170350476254024E-5
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