chr18:31593017:T>C Detail (hg38) (TTR)

Information

Genome

Assembly Position
hg19 chr18:29,172,980-29,172,980 View the variant detail on this assembly version.
hg38 chr18:31,593,017-31,593,017

HGVS

Type Transcript Protein
RefSeq NM_000371.3:c.191T>C NP_000362.1:p.Phe64Ser
Ensemble ENST00000237014.8:c.191T>C ENST00000237014.8:p.Phe64Ser
ENST00000610404.5:c.95T>C ENST00000610404.5:p.Phe32Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 2023-07-03 criteria provided, single submitter Familial amyloid neuropathy germline Detail
Likely pathogenic 2020-05-01 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.488 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED NA CLINVAR Detail
0.120 AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000371.4(TTR):c.191T>C (p.Phe64Ser) AND Familial amyloid neuropathy ClinVar Detail
NM_000371.4(TTR):c.191T>C (p.Phe64Ser) AND Cardiovascular phenotype ClinVar Detail
NA 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
rs104894665 dbSNP
Genome
hg38
Position
chr18:31,593,017-31,593,017
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser