ClinVar

NM_014748.4(SNX17):c.794C>T (p.Thr265Met)

Gene:

SNX17:sorting nexin 17 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 27375525 (on Assembly GRCh38)
• Chr2: 27598392 (on Assembly GRCh37)

Preferred name:

NM_014748.4(SNX17):c.794C>T (p.Thr265Met)

HGVS:

• NC_000002.12:g.27375525C>T
• NG_028219.1:g.10220G>A
• NM_001267059.2:c.758C>T
• NM_001267060.2:c.719C>T
• NM_001267061.2:c.734C>T
• NM_014748.4:c.794C>TMANE SELECT
• NP_001253988.1:p.Thr253Met
• NP_001253989.1:p.Thr240Met
• NP_001253990.1:p.Thr245Met
• NP_055563.1:p.Thr265Met
• NC_000002.11:g.27598392C>T
• NM_014748.2:c.794C>T
• NR_049782.2:n.1047C>T
• NR_049783.2:n.1020C>T
• NR_049784.2:n.996C>T
• NR_049785.2:n.929C>T
• NR_049786.2:n.878C>T
• NR_049787.2:n.729C>T
• NR_049788.2:n.659C>T

This HGVS expression did not pass validation

Protein change:

T240M

Molecular consequence:

• NM_001267059.2:c.758C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267060.2:c.719C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267061.2:c.734C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014748.4:c.794C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_049782.2:n.1047C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_049783.2:n.1020C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_049784.2:n.996C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_049785.2:n.929C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_049786.2:n.878C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_049787.2:n.729C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_049788.2:n.659C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]