chr10:43597858:G>A Detail (hg19) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,597,858-43,597,858
hg38 chr10:43,102,410-43,102,410 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.406G>A NP_065681.1:p.Glu136Lys
NM_020975.4:c.406G>A NP_066124.1:p.Glu136Lys
Ensemble ENST00000340058.6:c.406G>A ENST00000340058.6:p.Glu136Lys
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
COSMIC COSM6981790 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-01-05 criteria provided, multiple submitters, no conflicts Multiple endocrine neoplasia, type 2 germline Detail
Likely benign 2023-07-12 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2017-01-04 criteria provided, single submitter multiple endocrine neoplasia type 2A unknown Detail
Uncertain significance 2011-03-18 no assertion criteria provided not specified germline Detail
Uncertain significance 2023-03-30 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance 2021-11-27 criteria provided, single submitter familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2021-11-27 criteria provided, single submitter familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2021-11-27 criteria provided, single submitter familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2021-11-27 criteria provided, single submitter familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 unknown Detail
Uncertain significance 2021-11-27 criteria provided, single submitter familial medullary thyroid carcinoma,pheochromocytoma,multiple endocrine neoplasia type 2A,multiple endocrine neoplasia type 2B,Hirschsprung disease, susceptibility to, 1 unknown Detail
Benign 2022-01-01 criteria provided, single submitter ovarian cancer germline Detail
Uncertain significance 2023-06-30 criteria provided, single submitter Hirschsprung disease, susceptibility to, 1 unknown 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.406G>A (p.Glu136Lys) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND Multiple endocrine neoplasia type 2A ClinVar Detail
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND not specified ClinVar Detail
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND not provided ClinVar Detail
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND multiple conditions ClinVar Detail
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND Ovarian cancer ClinVar Detail
NM_020975.6(RET):c.406G>A (p.Glu136Lys) AND Hirschsprung disease, susceptibility to, 1 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
rs79014735 dbSNP
Genome
hg19
Position
chr10:43,597,858-43,597,858
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
3.4666050381326557E-4
Chromosome Counts in All Race (ExAC)
121398
Allele Counts in All Race (ExAC)
10
Heterozygous Counts in All Race (ExAC)
10
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.23736799617786E-5
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