ClinVar

NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)

Gene:

PRX:periaxin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

• Chr19: 40394405 (on Assembly GRCh38)
• Chr19: 40900312 (on Assembly GRCh37)

Preferred name:

NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)

HGVS:

• NC_000019.10:g.40394405G>A
• NG_007979.1:g.23960C>T
• NG_051224.1:g.817C>T
• NM_020956.2:c.*4152C>T
• NM_181882.3:c.3947C>TMANE SELECT
• NP_870998.2:p.Ala1316Val
• NP_870998.2:p.Ala1316Val
• LRG_265t1:c.*4152C>T
• LRG_265t2:c.3947C>T
• LRG_265:g.23960C>T
• LRG_265p2:p.Ala1316Val
• NC_000019.9:g.40900312G>A
• NM_181882.2:c.3947C>T

This HGVS expression did not pass validation

Protein change:

A1316V

Links:

dbSNP: rs142762689

NCBI 1000 Genomes Browser:

rs142762689

Molecular consequence:

• NM_020956.2:c.*4152C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_181882.3:c.3947C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1