Annotation Detail

Information

Associated Genes: TTR
Associated Variants: TTR p.Val50Met (p.V50M) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val50Met (p.V50M) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
Associated Disease: Familial amyloid neuropathy
Source Database: ClinVar
Description: NM_000371.4(TTR):c.148G>A (p.Val50Met) AND Familial amyloid neuropathy
Pubmed: 8100581
Pubmed: 10506096
Pubmed: 4138132
Pubmed: 10453736
Pubmed: 18460047
Pubmed: 6549130
Pubmed: 7389759
Pubmed: 10465115
Pubmed: 8778271
Pubmed: 4079954
Pubmed: 6100724
Pubmed: 2237288
Pubmed: 18863976
Pubmed: 1997217
Pubmed: 6651852
Pubmed: 2856994
Pubmed: 3022697
Pubmed: 2857043
Pubmed: 6782125
Pubmed: 2714785
Pubmed: 15930086
Pubmed: 1547960
Pubmed: 9215058
Pubmed: 6087811
Pubmed: 2624269
Pubmed: 1977686
Pubmed: 3908483
Pubmed: 6311926
Pubmed: 3022108
Pubmed: 1353008
Pubmed: 3022107
Pubmed: 1570831
Pubmed: 5507249
Pubmed: 3011930
Pubmed: 12566023
Pubmed: 15523922
Pubmed: 2564060
Pubmed: 9475090
Pubmed: 4354899
Pubmed: 3479441
Pubmed: 12050338
Pubmed: 8194279
Pubmed: 6583672
ClinVar Allele ID: 28456
ClinVar RefSeq Alternation Syntax: NM_000371.4:c.148G>A
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2024-03-11
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000014359
ClinVar Disease: Familial amyloid neuropathy
Observed Origin Sample: germline
Observed Origin Sample: unknown
Pubmed: 5652991
Pubmed: 12617705
Pubmed: 14673473
Pubmed: 8563114
Pubmed: 8857732
Pubmed: 3229002
Pubmed: 3457802
Pubmed: 2896079
Pubmed: 12433265
Pubmed: 5799493
Pubmed: 1490495
Pubmed: 192115
Pubmed: 6208668
Pubmed: 11709003
Pubmed: 1867256
Pubmed: 8064809
Pubmed: 7839813

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