chr10:43121950:G>C Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,617,398-43,617,398 View the variant detail on this assembly version.
hg38 chr10:43,121,950-43,121,950

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.2735G>C NP_065681.1:p.Arg912Pro
NM_020975.4:c.2735G>C NP_066124.1:p.Arg912Pro
Ensemble ENST00000340058.6:c.2735G>C ENST00000340058.6:p.Arg912Pro
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-07-01 no assertion criteria provided familial medullary thyroid carcinoma germline Detail
Uncertain significance 2020-10-14 criteria provided, single submitter Multiple endocrine neoplasia, type 2 germline Detail
Uncertain significance 2020-05-15 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.522 familial medullary thyroid carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020975.6(RET):c.2735G>C (p.Arg912Pro) AND Familial medullary thyroid carcinoma ClinVar Detail
NM_020975.6(RET):c.2735G>C (p.Arg912Pro) AND Multiple endocrine neoplasia, type 2 ClinVar Detail
NM_020975.6(RET):c.2735G>C (p.Arg912Pro) 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
rs78347871 dbSNP
Genome
hg38
Position
chr10:43,121,950-43,121,950
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8652
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)
121372
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)
1.6478265168243087E-5
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