ClinVar

NM_207197.3(ADAM15):c.2405C>T (p.Pro802Leu)

Genes:

ADAM15:ADAM metallopeptidase domain 15 [Gene - OMIM - HGNC]
ADAM15-EFNA4:ADAM15-EFNA4 readthrough [Gene]
DCST1-AS1:DCST1 antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

• Chr1: 155061956 (on Assembly GRCh38)
• Chr1: 155034432 (on Assembly GRCh37)

Preferred name:

NM_207197.3(ADAM15):c.2405C>T (p.Pro802Leu)

HGVS:

• NC_000001.11:g.155061956C>T
• NG_029561.1:g.3220C>T
• NG_029667.1:g.15671C>T
• NM_001261464.2:c.2308-289C>T
• NM_001261465.2:c.2280-289C>T
• NM_003815.5:c.2278-289C>T
• NM_207191.3:c.2208-289C>T
• NM_207194.3:c.2353-289C>T
• NM_207195.3:c.2330C>T
• NM_207196.3:c.2402C>T
• NM_207197.3:c.2405C>TMANE SELECT
• NP_997078.1:p.Pro777Leu
• NP_997079.1:p.Pro801Leu
• NP_997080.1:p.Pro802Leu
• NC_000001.10:g.155034432C>T
• NM_207197.1:c.2405C>T
• NR_048577.2:n.2473C>T
• NR_048578.2:n.2476C>T
• NR_048579.2:n.2401C>T

This HGVS expression did not pass validation

Protein change:

P777L

Molecular consequence:

• NM_001261464.2:c.2308-289C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001261465.2:c.2280-289C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003815.5:c.2278-289C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_207191.3:c.2208-289C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_207194.3:c.2353-289C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_207195.3:c.2330C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_207196.3:c.2402C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_207197.3:c.2405C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_048577.2:n.2473C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_048578.2:n.2476C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_048579.2:n.2401C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]