chr10:43100520:A>G Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,595,968-43,595,968 View the variant detail on this assembly version.
hg38 chr10:43,100,520-43,100,520

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.135A>G NP_065681.1:p.Ala45=
NM_020975.4:c.135A>G NP_066124.1:p.Ala45=
Ensemble ENST00000713926.1:c.135A>G ENST00000713926.1:p.Ala45=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.571
ToMMo:0.576
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.549

Prediction

ClinVar

Clinical Significance Benign
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 tgv39097053 TogoVar
COSMIC COSM4144677 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-03-12 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline Detail
Likely benign no assertion criteria provided not provided germline Detail
Benign 2021-11-07 criteria provided, single submitter pheochromocytoma germline Detail
Benign 2021-11-07 criteria provided, single submitter multiple endocrine neoplasia type 2A germline Detail
Benign 2021-11-07 criteria provided, single submitter multiple endocrine neoplasia type 2B germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.156 Hirschsprung disease 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.135A>G (p.Ala45=) AND not specified ClinVar Detail
NM_020975.6(RET):c.135A>G (p.Ala45=) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.135A>G (p.Ala45=) AND not provided ClinVar Detail
NM_020975.6(RET):c.135A>G (p.Ala45=) AND Pheochromocytoma ClinVar Detail
NM_020975.6(RET):c.135A>G (p.Ala45=) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.135A>G (p.Ala45=) AND Multiple endocrine neoplasia type 2B 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
rs1800858 dbSNP
Genome
hg38
Position
chr10:43,100,520-43,100,520
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
126.92
Standard deviation of sample read depth (HGVD)
61.89
Number of reference allele (HGVD)
1036
Number of alternative allele (HGVD)
1378
Allele Frequency (HGVD)
0.5708367854183927
Gene Symbol (HGVD)
RET
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))
rs1800858
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5764
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9660
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8612
East Asian Allele Counts (ExAC)
4729
East Asian Heterozygous Counts (ExAC)
2123
East Asian Homozygous Counts (ExAC)
1303
East Asian Allele Frequency (ExAC)
0.5491175104505341
Chromosome Counts in All Race (ExAC)
120924
Allele Counts in All Race (ExAC)
89064
Heterozygous Counts in All Race (ExAC)
22664
Homozygous Counts in All Race (ExAC)
33200
Allele Frequency in All Race (ExAC)
0.7365287287883299
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