ClinVar

NM_000371.4(TTR):c.69G>A (p.Thr23=)

Gene:

TTR:transthyretin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

• Chr18: 31591971 (on Assembly GRCh38)
• Chr18: 29171934 (on Assembly GRCh37)

Preferred name:

NM_000371.4(TTR):c.69G>A (p.Thr23=)

HGVS:

• NC_000018.10:g.31591971G>A
• NG_009490.1:g.5205G>A
• NM_000371.4:c.69G>AMANE SELECT
• NP_000362.1:p.Thr23=
• NP_000362.1:p.Thr23=
• LRG_416t1:c.69G>A
• LRG_416:g.5205G>A
• LRG_416p1:p.Thr23=
• NC_000018.9:g.29171934G>A
• NC_000018.9:g.29171934G>A
• NM_000371.3:c.69G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs752579437

NCBI 1000 Genomes Browser:

rs752579437

Molecular consequence:

• NM_000371.4:c.69G>A - synonymous variant - [Sequence Ontology: SO:0001819]