chr10:43600466:G>A Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,600,466-43,600,466
hg38 chr10:43,105,018-43,105,018 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.692G>A NP_065681.1:p.Arg231His
NM_020975.4:c.692G>A NP_066124.1:p.Arg231His
Ensemble ENST00000713926.1:c.563G>A ENST00000713926.1:p.Arg188His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 164761 OMIM
HGNC 9967 HGNC
Ensembl ENSG00000165731 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM3686739 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 1998-09-01 no assertion criteria provided Hirschsprung disease, susceptibility to, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.200 Hirschsprung disease, susceptibility to, 1 NA UNIPROT Detail
0.156 Hirschsprung disease 1 NA CLINVAR Detail
0.605 pheochromocytoma Here, we report that one mutation affecting the extracytoplasmic cadherin domain... BeFree 9502784 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.692G>A (p.Arg231His) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Here, we report that one mutation affecting the extracytoplasmic cadherin domain (R231H) and two mut... 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
rs79661516 dbSNP
Genome
hg19
Position
chr10:43,600,466-43,600,466
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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