chr10:43114541:C>T Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,609,989-43,609,989 View the variant detail on this assembly version.
hg38 chr10:43,114,541-43,114,541

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.1941C>T NP_065681.1:p.Ile647=
NM_020975.4:c.1941C>T NP_066124.1:p.Ile647=
Ensemble ENST00000340058.6:c.1941C>T ENST00000340058.6:p.Ile647=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv367229669 TogoVar
COSMIC COSM1957218 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 1999-04-01 no assertion criteria provided Hirschsprung disease, susceptibility to, 1 germline Detail
Likely benign 2021-12-13 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2023-07-01 criteria provided, conflicting interpretations not provided germline Detail
Benign 2019-05-28 criteria provided, single submitter multiple endocrine neoplasia type 2A unknown Detail
Likely benign 2024-01-24 criteria provided, multiple submitters, no conflicts 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
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.1941C>T (p.Ile647=) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NM_020975.6(RET):c.1941C>T (p.Ile647=) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.1941C>T (p.Ile647=) AND not provided ClinVar Detail
NM_020975.6(RET):c.1941C>T (p.Ile647=) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.1941C>T (p.Ile647=) AND Multiple endocrine neoplasia, type 2 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
rs75225191 dbSNP
Genome
hg38
Position
chr10:43,114,541-43,114,541
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8644
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)
121202
Allele Counts in All Race (ExAC)
11
Heterozygous Counts in All Race (ExAC)
11
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.075757825778452E-5
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