ClinVar

NM_012094.5(PRDX5):c.49C>A (p.Leu17Ile)

Genes:

PRDX5:peroxiredoxin 5 [Gene - OMIM - HGNC]
TRMT112:tRNA methyltransferase activator subunit 11-2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 64318264 (on Assembly GRCh38)
• Chr11: 64085736 (on Assembly GRCh37)

Preferred name:

NM_012094.5(PRDX5):c.49C>A (p.Leu17Ile)

HGVS:

• NC_000011.10:g.64318264C>A
• NG_185380.1:g.339C>A
• NM_001358511.2:c.49C>A
• NM_001358516.1:c.-108C>A
• NM_001372071.1:c.-147+278G>T
• NM_012094.5:c.49C>AMANE SELECT
• NM_181651.3:c.49C>A
• NM_181652.3:c.49C>A
• NP_001345440.2:p.Leu17Ile
• NP_036226.2:p.Leu17Ile
• NP_857634.2:p.Leu17Ile
• NP_857635.2:p.Leu17Ile
• NC_000011.9:g.64085736C>A
• NM_012094.4:c.49C>A

This HGVS expression did not pass validation

Protein change:

L17I

Molecular consequence:

• NM_001372071.1:c.-147+278G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001358511.2:c.49C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_012094.5:c.49C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181651.3:c.49C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181652.3:c.49C>A - missense variant - [Sequence Ontology: SO:0001583]