chr18:29178565:G>A Detail (hg19) (TTR)

Information

Genome

Assembly Position
hg19 chr18:29,178,565-29,178,565
hg38 chr18:31,598,602-31,598,602 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000371.3:c.371G>A NP_000362.1:p.Arg124His
Ensemble ENST00000237014.8:c.371G>A ENST00000237014.8:p.Arg124His
ENST00000610404.5:c.275G>A ENST00000610404.5:p.Arg92His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.009

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv59594254 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-20 criteria provided, multiple submitters, no conflicts Familial amyloid neuropathy germline Detail
Benign 2013-11-19 criteria provided, single submitter not specified germline Detail
Benign Likely benign 2016-06-10 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2017-07-26 criteria provided, single submitter germline Detail
Benign 2017-11-28 criteria provided, single submitter cardiomyopathy germline Detail
Uncertain significance criteria provided, single submitter Charcot-Marie-Tooth disease 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.371G>A (p.Arg124His) AND Familial amyloid neuropathy ClinVar Detail
NM_000371.4(TTR):c.371G>A (p.Arg124His) AND not specified ClinVar Detail
NM_000371.4(TTR):c.371G>A (p.Arg124His) AND not provided ClinVar Detail
NM_000371.4(TTR):c.371G>A (p.Arg124His) AND Cardiovascular phenotype ClinVar Detail
NM_000371.4(TTR):c.371G>A (p.Arg124His) AND Cardiomyopathy ClinVar Detail
NM_000371.4(TTR):c.371G>A (p.Arg124His) AND Charcot-Marie-Tooth disease 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
rs121918095 dbSNP
Genome
hg19
Position
chr18:29,178,565-29,178,565
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
55.42
Standard deviation of sample read depth (HGVD)
27.06
Number of reference allele (HGVD)
2414
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.278145695364238E-4
Gene Symbol (HGVD)
TTR
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs121918095
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
77
East Asian Heterozygous Counts (ExAC)
75
East Asian Homozygous Counts (ExAC)
1
East Asian Allele Frequency (ExAC)
0.008901734104046244
Chromosome Counts in All Race (ExAC)
121336
Allele Counts in All Race (ExAC)
79
Heterozygous Counts in All Race (ExAC)
77
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
6.510845915474385E-4
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