chr2:176094645:C>G Detail (hg38) (HOXD13)

Information

Genome

Assembly Position
hg19 chr2:176,959,373-176,959,373 View the variant detail on this assembly version.
hg38 chr2:176,094,645-176,094,645

HGVS

Type Transcript Protein
RefSeq NM_000523.3:c.947C>G NP_000514.2:p.Ser316Cys
Ensemble ENST00000392539.4:c.947C>G ENST00000392539.4:p.Ser316Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 142989 OMIM
HGNC 5136 HGNC
Ensembl ENSG00000128714 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
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-04-01 no assertion criteria provided brachydactyly type E1 germline Detail
Pathogenic 2003-04-01 no assertion criteria provided brachydactyly type D germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 BRACHYDACTYLY, TYPE D NA CLINVAR Detail
0.360 BRACHYDACTYLY, TYPE E1 Missense mutations in the homeodomain of HOXD13 are associated with brachydactyl... UNIPROT 12649808 Detail
0.360 BRACHYDACTYLY, TYPE E1 NA CLINVAR Detail
0.360 BRACHYDACTYLY, TYPE D Missense mutations in the homeodomain of HOXD13 are associated with brachydactyl... UNIPROT 12649808 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000523.4(HOXD13):c.947C>G (p.Ser316Cys) AND Brachydactyly type E1 ClinVar Detail
NM_000523.4(HOXD13):c.947C>G (p.Ser316Cys) AND Brachydactyly type D ClinVar Detail
NA DisGeNET Detail
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. DisGeNET Detail
NA DisGeNET Detail
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. 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
rs28928892 dbSNP
Genome
hg38
Position
chr2:176,094,645-176,094,645
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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