ClinVar

NM_001282144.2(NLRX1):c.794C>T (p.Pro265Leu)

Gene:

NLRX1:NLR family member X1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119174043 (on Assembly GRCh38)
• Chr11: 119044752 (on Assembly GRCh37)

Preferred name:

NM_001282144.2(NLRX1):c.794C>T (p.Pro265Leu)

HGVS:

• NC_000011.10:g.119174043C>T
• NG_047185.1:g.10710C>T
• NM_001282143.2:c.794C>T
• NM_001282144.2:c.794C>TMANE SELECT
• NM_001282358.2:c.794C>T
• NM_024618.4:c.794C>T
• NP_001269072.1:p.Pro265Leu
• NP_001269073.1:p.Pro265Leu
• NP_001269287.1:p.Pro265Leu
• NP_078894.2:p.Pro265Leu
• NC_000011.9:g.119044752C>T
• NM_024618.2:c.794C>T

This HGVS expression did not pass validation

Protein change:

P265L

Links:

dbSNP: rs199476042

NCBI 1000 Genomes Browser:

rs199476042

Molecular consequence:

• NM_001282143.2:c.794C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282144.2:c.794C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282358.2:c.794C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024618.4:c.794C>T - missense variant - [Sequence Ontology: SO:0001583]