chr18:29172974:A>G Detail (hg19) (TTR)

Information

Genome

Assembly Position
hg19 chr18:29,172,974-29,172,974
hg38 chr18:31,593,011-31,593,011 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000371.3:c.185A>G NP_000362.1:p.Glu62Gly
Ensemble ENST00000237014.8:c.185A>G ENST00000237014.8:p.Glu62Gly
ENST00000610404.5:c.89A>G ENST00000610404.5:p.Glu30Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 176300 OMIM
HGNC 12405 HGNC
Ensembl ENSG00000118271 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 1992-08-01 no assertion criteria provided Familial amyloid neuropathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.488 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset ... UNIPROT 10036587 Detail
0.012 Cardiomyopathies A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. BeFree 17453626 Detail
0.247 carpal tunnel syndrome We report the identification of a new transthyretin (TTR) gene mutation and vari... BeFree 17453626 Detail
0.005 Peripheral neuropathy We report the identification of a new transthyretin (TTR) gene mutation and vari... BeFree 17453626 Detail
0.488 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED Two novel variants of transthyretin identified in Japanese cases with familial a... UNIPROT 2363717 Detail
0.488 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000371.4(TTR):c.185A>G (p.Glu62Gly) AND Familial amyloid neuropathy ClinVar Detail
A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis. DisGeNET Detail
A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. DisGeNET Detail
We report the identification of a new transthyretin (TTR) gene mutation and variant protein, Glu61Gl... DisGeNET Detail
We report the identification of a new transthyretin (TTR) gene mutation and variant protein, Glu61Gl... DisGeNET Detail
Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuro... DisGeNET 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
rs11541796 dbSNP
Genome
hg19
Position
chr18:29,172,974-29,172,974
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser