ClinVar

NM_014758.3(SNX19):c.2693G>T (p.Arg898Met)

Gene:

SNX19:sorting nexin 19 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.3

Genomic location:

• Chr11: 130880687 (on Assembly GRCh38)
• Chr11: 130750582 (on Assembly GRCh37)

Preferred name:

NM_014758.3(SNX19):c.2693G>T (p.Arg898Met)

HGVS:

• NC_000011.10:g.130880687C>A
• NG_053190.1:g.40802G>T
• NG_053190.2:g.40792G>T
• NM_001301089.2:c.833G>T
• NM_001347918.2:c.2573G>T
• NM_001347919.2:c.2574-976G>T
• NM_001347920.2:c.*21089G>T
• NM_001347922.2:c.1022G>T
• NM_001347923.2:c.968G>T
• NM_001347924.2:c.713G>T
• NM_001347925.2:c.659G>T
• NM_001347926.2:c.714-976G>T
• NM_001347927.2:c.413G>T
• NM_014758.3:c.2693G>TMANE SELECT
• NP_001288018.1:p.Arg278Met
• NP_001334847.2:p.Arg858Met
• NP_001334851.2:p.Arg341Met
• NP_001334852.2:p.Arg323Met
• NP_001334853.1:p.Arg238Met
• NP_001334854.1:p.Arg220Met
• NP_001334856.1:p.Arg138Met
• NP_055573.3:p.Arg898Met
• NC_000011.9:g.130750582C>A
• NM_014758.2:c.2693G>T
• NR_144939.2:n.3318G>T

This HGVS expression did not pass validation

Protein change:

R138M

Molecular consequence:

• NM_001347920.2:c.*21089G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001347919.2:c.2574-976G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001347926.2:c.714-976G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301089.2:c.833G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347918.2:c.2573G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347922.2:c.1022G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347923.2:c.968G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347924.2:c.713G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347925.2:c.659G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347927.2:c.413G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014758.3:c.2693G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_144939.2:n.3318G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]