chr18:29175091:G>A Detail (hg19) (TTR)

Information

Genome

Assembly Position
hg19 chr18:29,175,091-29,175,091
hg38 chr18:31,595,128-31,595,128 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000371.3:c.209G>A NP_000362.1:p.Ser70Asn
Ensemble ENST00000237014.8:c.209G>A ENST00000237014.8:p.Ser70Asn
ENST00000610404.5:c.113G>A ENST00000610404.5:p.Ser38Asn
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 Uncertain significance
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
Uncertain significance 2022-07-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2022-10-13 criteria provided, single submitter Familial amyloid neuropathy germline Detail
Uncertain significance 2020-10-06 criteria provided, single submitter unknown Detail
Uncertain significance 2022-11-02 criteria provided, single submitter germline Detail
Uncertain significance 2021-10-06 criteria provided, single submitter carpal tunnel syndrome 1,Familial amyloid neuropathy,Hyperthyroxinemia, dystransthyretinemic unknown Detail
Uncertain significance 2021-10-06 criteria provided, single submitter carpal tunnel syndrome 1,Familial amyloid neuropathy,Hyperthyroxinemia, dystransthyretinemic unknown Detail
Uncertain significance 2021-10-06 criteria provided, single submitter carpal tunnel syndrome 1,Familial amyloid neuropathy,Hyperthyroxinemia, dystransthyretinemic 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.209G>A (p.Ser70Asn) AND not provided ClinVar Detail
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) AND Familial amyloid neuropathy ClinVar Detail
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) AND Tip-toe gait ClinVar Detail
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) AND Cardiovascular phenotype ClinVar Detail
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) AND multiple conditions ClinVar Detail
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) 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
rs121918080 dbSNP
Genome
hg19
Position
chr18:29,175,091-29,175,091
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8618
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)
120430
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.321431536992444E-5
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