chr18:29178573:A>G Detail (hg19) (TTR)

Information

Genome

Assembly Position
hg19 chr18:29,178,573-29,178,573
hg38 chr18:31,598,610-31,598,610 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000371.3:c.379A>G NP_000362.1:p.Ile127Val
Ensemble ENST00000237014.8:c.379A>G ENST00000237014.8:p.Ile127Val
ENST00000610404.5:c.283A>G ENST00000610404.5:p.Ile95Val
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 2023-12-13 criteria provided, multiple submitters, no conflicts Familial amyloid neuropathy germline unknown Detail
Likely pathogenic 2017-03-01 criteria provided, single submitter not specified germline Detail
Pathogenic Likely pathogenic 2023-10-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-12-08 criteria provided, single submitter germline Detail
Pathogenic 2021-09-09 criteria provided, single submitter Hyperthyroxinemia, dystransthyretinemic,carpal tunnel syndrome 1,Familial amyloid neuropathy unknown Detail
Pathogenic 2021-09-09 criteria provided, single submitter Hyperthyroxinemia, dystransthyretinemic,carpal tunnel syndrome 1,Familial amyloid neuropathy unknown Detail
Pathogenic 2021-09-09 criteria provided, single submitter Hyperthyroxinemia, dystransthyretinemic,carpal tunnel syndrome 1,Familial amyloid neuropathy unknown Detail
Pathogenic 2022-02-22 criteria provided, single submitter Hereditary amyloidosis germline 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.379A>G (p.Ile127Val) AND Familial amyloid neuropathy ClinVar Detail
NM_000371.4(TTR):c.379A>G (p.Ile127Val) AND not specified ClinVar Detail
NM_000371.4(TTR):c.379A>G (p.Ile127Val) AND not provided ClinVar Detail
NM_000371.4(TTR):c.379A>G (p.Ile127Val) AND Cardiovascular phenotype ClinVar Detail
NM_000371.4(TTR):c.379A>G (p.Ile127Val) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.379A>G (p.Ile127Val) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.379A>G (p.Ile127Val) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.379A>G (p.Ile127Val) AND Hereditary amyloidosis 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
rs121918089 dbSNP
Genome
hg19
Position
chr18:29,178,573-29,178,573
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser