chr18:29175144:A>T Detail (hg19) (TTR)

Information

Genome

Assembly Position
hg19 chr18:29,175,144-29,175,144
hg38 chr18:31,595,181-31,595,181 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000371.3:c.262A>T NP_000362.1:p.Ile88Leu
Ensemble ENST00000237014.8:c.262A>T ENST00000237014.8:p.Ile88Leu
ENST00000610404.5:c.166A>T ENST00000610404.5:p.Ile56Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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 Likely pathogenic 2023-11-17 criteria provided, multiple submitters, no conflicts Familial amyloid neuropathy germline Detail
Pathogenic Likely pathogenic 2023-04-19 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-06-14 criteria provided, single submitter germline Detail
Likely pathogenic 2022-04-24 criteria provided, single submitter Hyperthyroxinemia, dystransthyretinemic,Familial amyloid neuropathy,carpal tunnel syndrome 1 unknown Detail
Likely pathogenic 2022-04-24 criteria provided, single submitter Hyperthyroxinemia, dystransthyretinemic,Familial amyloid neuropathy,carpal tunnel syndrome 1 unknown Detail
Likely pathogenic 2022-04-24 criteria provided, single submitter Hyperthyroxinemia, dystransthyretinemic,Familial amyloid neuropathy,carpal tunnel syndrome 1 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.262A>T (p.Ile88Leu) AND Familial amyloid neuropathy ClinVar Detail
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) AND not provided ClinVar Detail
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) AND Cardiovascular phenotype ClinVar Detail
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) AND multiple conditions 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
rs121918085 dbSNP
Genome
hg19
Position
chr18:29,175,144-29,175,144
Variant Type
snv
Reference Allele
A
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121290
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.122351389232418E-5
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