chr18:29178618:G>A Detail (hg19) (TTR)

Information

Genome

Assembly Position
hg19 chr18:29,178,618-29,178,618
hg38 chr18:31,598,655-31,598,655 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000371.3:c.424G>A NP_000362.1:p.Val142Ile
Ensemble ENST00000237014.8:c.424G>A ENST00000237014.8:p.Val142Ile
ENST00000610404.5:c.328G>A ENST00000610404.5:p.Val110Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
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 tgv59594279 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-03-26 criteria provided, multiple submitters, no conflicts Familial amyloid neuropathy germline unknown Detail
Pathogenic 2011-08-18 criteria provided, single submitter Amyloid Cardiomyopathy, Transthyretin-related germline Detail
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-05-30 criteria provided, single submitter cardiomyopathy germline Detail
Pathogenic 2022-08-22 criteria provided, single submitter germline Detail
Pathogenic criteria provided, single submitter anemia germline Detail
Pathogenic 2019-03-12 criteria provided, single submitter ATTRV122I amyloidosis germline Detail
Pathogenic criteria provided, single submitter Charcot-Marie-Tooth disease germline Detail
Pathogenic 2022-04-26 criteria provided, single submitter carpal tunnel syndrome 1,Hyperthyroxinemia, dystransthyretinemic,Familial amyloid neuropathy unknown Detail
Pathogenic 2022-04-26 criteria provided, single submitter carpal tunnel syndrome 1,Hyperthyroxinemia, dystransthyretinemic,Familial amyloid neuropathy unknown Detail
Pathogenic 2022-04-26 criteria provided, single submitter carpal tunnel syndrome 1,Hyperthyroxinemia, dystransthyretinemic,Familial amyloid neuropathy unknown Detail
Likely pathogenic 2022-12-19 no assertion criteria provided germline Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts 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
0.120 Amyloid Cardiomyopathy, Transthyretin-related NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND Familial amyloid neuropathy ClinVar Detail
NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND Amyloid Cardiomyopathy, Transthyretin-related ClinVar Detail
NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND not provided ClinVar Detail
NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND Cardiomyopathy ClinVar Detail
NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND Cardiovascular phenotype ClinVar Detail
NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND ATTRV122I amyloidosis ClinVar Detail
NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND Charcot-Marie-Tooth disease ClinVar Detail
NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND Tip-toe gait ClinVar Detail
NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND TTR-related disorder 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
rs76992529 dbSNP
Genome
hg19
Position
chr18:29,178,618-29,178,618
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
103.74
Standard deviation of sample read depth (HGVD)
50.19
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
Gene Symbol (HGVD)
TTR
East Asian Chromosome Counts (ExAC)
8642
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)
121360
Allele Counts in All Race (ExAC)
167
Heterozygous Counts in All Race (ExAC)
165
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
0.001376071193144364
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