chr10:43118381:T>C Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,613,829-43,613,829 View the variant detail on this assembly version.
hg38 chr10:43,118,381-43,118,381

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.2293T>C NP_065681.1:p.Ser765Pro
NM_020975.4:c.2293T>C NP_066124.1:p.Ser765Pro
Ensemble ENST00000340058.6:c.2293T>C ENST00000340058.6:p.Ser765Pro
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 1994-01-27 no assertion criteria provided Hirschsprung disease, susceptibility to, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.156 Hirschsprung disease 1 NA CLINVAR Detail
0.200 Hirschsprung disease, susceptibility to, 1 Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. UNIPROT 7704557 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.2293T>C (p.Ser765Pro) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NA DisGeNET Detail
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. 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
rs75075748 dbSNP
Genome
hg38
Position
chr10:43,118,381-43,118,381
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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