chr18:31592974:G>A Detail (hg38) (TTR)

Information

Genome

Assembly Position
hg19 chr18:29,172,937-29,172,937 View the variant detail on this assembly version.
hg38 chr18:31,592,974-31,592,974

HGVS

Type Transcript Protein
RefSeq NM_000371.3:c.148G>A NP_000362.1:p.Val50Met
Ensemble ENST00000237014.8:c.148G>A ENST00000237014.8:p.Val50Met
ENST00000610404.5:c.52G>A ENST00000610404.5:p.Val18Met
Summary

MGeND

Clinical significance Pathogenic
Variant entry 6
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
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 tgv231636089 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Familial amyloid polyneuropathy germline MGS000009
(TMGS000012) 		Shoji Tsuji Tokyo University
Pathogenic Familial amyloid polyneuropathy germline MGS000009
(TMGS000039) 		Shoji Tsuji Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-03-11 criteria provided, multiple submitters, no conflicts Familial amyloid neuropathy germline unknown Detail
Pathogenic 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-01-30 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic criteria provided, single submitter Charcot-Marie-Tooth disease germline Detail
Pathogenic 2022-12-05 criteria provided, single submitter germline Detail
Pathogenic 2021-12-26 criteria provided, single submitter carpal tunnel syndrome 1,Hyperthyroxinemia, dystransthyretinemic,Familial amyloid neuropathy unknown Detail
Pathogenic 2021-12-26 criteria provided, single submitter carpal tunnel syndrome 1,Hyperthyroxinemia, dystransthyretinemic,Familial amyloid neuropathy unknown Detail
Pathogenic 2021-12-26 criteria provided, single submitter carpal tunnel syndrome 1,Hyperthyroxinemia, dystransthyretinemic,Familial amyloid neuropathy unknown Detail
Pathogenic 2024-03-01 criteria provided, single submitter TTR-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.488 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED NA CLINVAR Detail
0.488 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. UNIPROT 12050338 Detail
0.129 Amyloidosis, Familial Familial amyloidosis with polyneuropathy (FAP) is an autosomal dominant disease ... BeFree 20840742 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000371.4(TTR):c.148G>A (p.Val50Met) AND Familial amyloid neuropathy ClinVar Detail
NM_000371.4(TTR):c.148G>A (p.Val50Met) AND not provided ClinVar Detail
NM_000371.4(TTR):c.148G>A (p.Val50Met) AND Cardiomyopathy ClinVar Detail
NM_000371.4(TTR):c.148G>A (p.Val50Met) AND Charcot-Marie-Tooth disease ClinVar Detail
NM_000371.4(TTR):c.148G>A (p.Val50Met) AND Cardiovascular phenotype ClinVar Detail
NM_000371.4(TTR):c.148G>A (p.Val50Met) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.148G>A (p.Val50Met) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.148G>A (p.Val50Met) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.148G>A (p.Val50Met) AND TTR-related disorder ClinVar Detail
NA DisGeNET Detail
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. DisGeNET Detail
Familial amyloidosis with polyneuropathy (FAP) is an autosomal dominant disease caused by transthyre... 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
rs28933979 dbSNP
Genome
hg38
Position
chr18:31,592,974-31,592,974
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8650
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)
121404
Allele Counts in All Race (ExAC)
18
Heterozygous Counts in All Race (ExAC)
18
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.4826529603637441E-4
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