chr10:43128115:T>C Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,623,563-43,623,563 View the variant detail on this assembly version.
hg38 chr10:43,128,115-43,128,115

HGVS

Type Transcript Protein
RefSeq NM_020975.4:c.3191T>C NP_066124.1:p.Met1064Thr
Ensemble ENST00000355710.8:c.3191T>C ENST00000355710.8:p.Met1064Thr
ENST00000615310.5:c.*1361T>C
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 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 tgv367230160 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2014-06-01 no assertion criteria provided Aganglionic megacolon germline Detail
Uncertain significance 2024-01-13 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline Detail
Uncertain significance 2023-04-04 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2022-04-13 criteria provided, single submitter multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2022-04-13 criteria provided, single submitter multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2022-04-13 criteria provided, single submitter multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2022-04-13 criteria provided, single submitter multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2022-04-13 criteria provided, single submitter multiple endocrine neoplasia type 2B,pheochromocytoma,familial medullary thyroid carcinoma,multiple endocrine neoplasia type 2A,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2023-10-24 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2022-03-18 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 multiple endocrine neoplasia type 2A In contrast, three mutations mapping into the intracytoplasmic domain neither mo... BeFree 9502784 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND Aganglionic megacolon ClinVar Detail
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NM_020975.6(RET):c.3191T>C (p.Met1064Thr) AND not provided ClinVar Detail
In contrast, three mutations mapping into the intracytoplasmic domain neither modified the transform... 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
rs149513065 dbSNP
Genome
hg38
Position
chr10:43,128,115-43,128,115
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8654
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)
121352
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4721471421979035E-5
Genome browser