ClinVar

NM_199334.5(THRA):c.788C>T (p.Ala263Val)

Gene:

THRA:thyroid hormone receptor alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.1

Genomic location:

• Chr17: 40088306 (on Assembly GRCh38)
• Chr17: 38244559 (on Assembly GRCh37)

Preferred name:

NM_199334.5(THRA):c.788C>T (p.Ala263Val)

HGVS:

• NC_000017.11:g.40088306C>T
• NG_023345.1:g.31114C>T
• NM_001190918.2:c.788C>T
• NM_001190919.2:c.788C>T
• NM_003250.6:c.788C>T
• NM_199334.4:c.788C>T
• NM_199334.5:c.788C>TMANE SELECT
• NP_001177847.1:p.Ala263Val
• NP_001177848.1:p.Ala263Val
• NP_003241.2:p.Ala263Val
• NP_955366.1:p.Ala263Val
• NC_000017.10:g.38244559C>T
• NM_003250.5:c.788C>T
• NM_199334.3:c.788C>T

This HGVS expression did not pass validation

Protein change:

A263V

Links:

dbSNP: rs1555545033

NCBI 1000 Genomes Browser:

rs1555545033

Molecular consequence:

• NM_001190918.2:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001190919.2:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003250.6:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_199334.5:c.788C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1