chr15:42736715:G>A Detail (hg38) (CDAN1)

Information

Genome

Assembly Position
hg19 chr15:43,028,913-43,028,913 View the variant detail on this assembly version.
hg38 chr15:42,736,715-42,736,715

HGVS

Type Transcript Protein
RefSeq NM_138477.2:c.156C>T NP_612486.2:p.Phe52=
Ensemble ENST00000356231.4:c.156C>T ENST00000356231.4:p.Phe52=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 Congenital dyserythropoietic anemia, type I NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs80338694 dbSNP
Genome
hg38
Position
chr15:42,736,715-42,736,715
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser