ClinVar

NM_000371.4(TTR):c.13C>G (p.Arg5Gly)

Gene:

TTR:transthyretin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

• Chr18: 31591915 (on Assembly GRCh38)
• Chr18: 29171878 (on Assembly GRCh37)

Preferred name:

NM_000371.4(TTR):c.13C>G (p.Arg5Gly)

HGVS:

• NC_000018.10:g.31591915C>G
• NG_009490.1:g.5149C>G
• NM_000371.4:c.13C>GMANE SELECT
• NP_000362.1:p.Arg5Gly
• NP_000362.1:p.Arg5Gly
• LRG_416t1:c.13C>G
• LRG_416:g.5149C>G
• LRG_416p1:p.Arg5Gly
• NC_000018.9:g.29171878C>G
• NM_000371.3:c.13C>G

This HGVS expression did not pass validation

Protein change:

R5G

Links:

dbSNP: rs144792001

NCBI 1000 Genomes Browser:

rs144792001

Molecular consequence:

• NM_000371.4:c.13C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1