chr10:43606815:G>A Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,606,815-43,606,815
hg38 chr10:43,111,367-43,111,367 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.1424G>A NP_065681.1:p.Arg475Gln
NM_020975.4:c.1424G>A NP_066124.1:p.Arg475Gln
Ensemble ENST00000340058.6:c.1424G>A ENST00000340058.6:p.Arg475Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
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 tgv39097748 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided 2013-09-19 no assertion provided not specified germline Detail
Uncertain significance 2014-06-01 criteria provided, single submitter Aganglionic megacolon germline Detail
Uncertain significance 2023-10-18 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline Detail
Uncertain significance 2022-03-11 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.200 Hirschsprung disease, susceptibility to, 1 NA UNIPROT Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) AND not specified ClinVar Detail
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) AND Aganglionic megacolon ClinVar Detail
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.1424G>A (p.Arg475Gln) AND Hereditary cancer-predisposing syndrome ClinVar Detail
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
rs138624658 dbSNP
Genome
hg19
Position
chr10:43,606,815-43,606,815
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs138624658
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120980
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6531658125309968E-5
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