chr18:29178544:C>G Detail (hg19) (TTR)

Information

Genome

Assembly Position
hg19 chr18:29,178,544-29,178,544
hg38 chr18:31,598,581-31,598,581 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000371.3:c.350C>G NP_000362.1:p.Ala117Gly
Ensemble ENST00000237014.8:c.350C>G ENST00000237014.8:p.Ala117Gly
ENST00000610404.5:c.254C>G ENST00000610404.5:p.Ala85Gly
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 1994-01-01 no assertion criteria provided Familial amyloid neuropathy unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.488 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000371.4(TTR):c.350C>G (p.Ala117Gly) AND Familial amyloid neuropathy 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
rs121918087 dbSNP
Genome
hg19
Position
chr18:29,178,544-29,178,544
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser