chr10:43113621:T>G Detail (hg38) (RET)

Information

Genome

Assembly Position
hg19 chr10:43,609,069-43,609,069 View the variant detail on this assembly version.
hg38 chr10:43,113,621-43,113,621

HGVS

Type Transcript Protein
RefSeq NM_020630.4:c.1825T>G NP_065681.1:p.Cys609Gly
NM_020975.4:c.1825T>G NP_066124.1:p.Cys609Gly
Ensemble ENST00000340058.6:c.1825T>G ENST00000340058.6:p.Cys609Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.614 multiple endocrine neoplasia type 2A NA CLINVAR Detail
0.522 familial medullary thyroid carcinoma NA CLINVAR Detail
0.320 Medullary carcinoma of thyroid Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with... BeFree 16343103 Detail
0.006 Hyperparathyroidism, Primary In conclusion, at variance from what already known, in this large kindred the Cy... BeFree 19475497 Detail
0.605 pheochromocytoma In conclusion, at variance from what already known, in this large kindred the Cy... BeFree 19475497 Detail
0.320 Medullary carcinoma of thyroid In conclusion, at variance from what already known, in this large kindred the Cy... BeFree 19475497 Detail
0.614 multiple endocrine neoplasia type 2A In this short review article, we comment on our previous report of a large multi... BeFree 22584703 Detail
0.605 pheochromocytoma Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with... BeFree 16343103 Detail
<0.001 Hirschsprung disease 1 Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C6... BeFree 23744765 Detail
0.006 Hyperparathyroidism, Primary In this short review article, we comment on our previous report of a large multi... BeFree 22584703 Detail
<0.001 Hirschsprung Disease Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C6... BeFree 23744765 Detail
0.305 multiple endocrine neoplasia Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with... BeFree 16343103 Detail
0.320 Medullary carcinoma of thyroid In this short review article, we comment on our previous report of a large multi... BeFree 22584703 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma an... DisGeNET Detail
In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation... DisGeNET Detail
In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation... DisGeNET Detail
In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation... DisGeNET Detail
In this short review article, we comment on our previous report of a large multiple endocrine neopla... DisGeNET Detail
Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma an... DisGeNET Detail
Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C609R; n=1) and 13 (Y7... DisGeNET Detail
In this short review article, we comment on our previous report of a large multiple endocrine neopla... DisGeNET Detail
Four subjects (aged 31-50 years) with co-occurring RET mutations in exons 10 (C609R; n=1) and 13 (Y7... DisGeNET Detail
Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma an... DisGeNET Detail
In this short review article, we comment on our previous report of a large multiple endocrine neopla... 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
rs77558292 dbSNP
Genome
hg38
Position
chr10:43,113,621-43,113,621
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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