chr18:31598655:GTC> Detail (hg38) (TTR)

Information

Genome

Assembly Position
hg19 chr18:29,178,618-29,178,620 
hg38 chr18:31,598,655-31,598,657

HGVS

Type Transcript Protein
RefSeq NM_000371.3:c.424_426delGTC NP_000362.1:p.Val142del
Ensemble ENST00000237014.8:c.424_426delGTC ENST00000237014.8:p.Val142del
ENST00000610404.5:c.328_330delGTC ENST00000610404.5:p.Val110del
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 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.488 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs121918096 dbSNP
Genome
hg38
Position
chr18:31,598,655-31,598,657
Variant Type
snv
Reference Allele
GTC
Alternative Allele
-
Genome browser