chr10:43086608:T>C Detail (hg38) (RET, MCS+9.7, LOC110121502)

Information

Genome

Assembly Position
hg19 chr10:43,582,056-43,582,056 View the variant detail on this assembly version.
hg38 chr10:43,086,608-43,086,608

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.73+9277T>C
NM_020975.4:c.73+9277T>C
Ensemble ENST00000340058.6:c.73+9277T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.586
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign; 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 tgv39096604 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2020-02-19 no assertion criteria provided Hirschsprung disease, susceptibility to, 1 germline Detail
Benign 2017-12-06 criteria provided, single submitter not specified germline Detail
risk factor 2017-11-20 criteria provided, single submitter Aganglionic megacolon germline Detail
Benign 2024-01-22 criteria provided, single submitter Multiple endocrine neoplasia, type 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.156 Hirschsprung disease 1 NA CLINVAR Detail
0.529 Hirschsprung Disease No correlation between the rs2435357 polymorphism of RET and the expression of H... BeFree 24845202 Detail
0.156 Hirschsprung disease 1 No correlation between the rs2435357 polymorphism of RET and the expression of H... BeFree 24845202 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.73+9277T>C AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NM_020975.6(RET):c.73+9277T>C AND not specified ClinVar Detail
NM_020975.6(RET):c.73+9277T>C AND Aganglionic megacolon ClinVar Detail
NM_020975.6(RET):c.73+9277T>C AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NA DisGeNET Detail
No correlation between the rs2435357 polymorphism of RET and the expression of Hirschsprung disease ... DisGeNET Detail
No correlation between the rs2435357 polymorphism of RET and the expression of Hirschsprung disease ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2435357 dbSNP
Genome
hg38
Position
chr10:43,086,608-43,086,608
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs2435357
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5862
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9825
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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