ClinVar

NM_014849.5(SV2A):c.1751C>T (p.Pro584Leu)

Gene:

SV2A:synaptic vesicle glycoprotein 2A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.2

Genomic location:

• Chr1: 149906784 (on Assembly GRCh38)
• Chr1: 149878336 (on Assembly GRCh37)

Preferred name:

NM_014849.5(SV2A):c.1751C>T (p.Pro584Leu)

HGVS:

• NC_000001.11:g.149906784G>A
• NG_050966.1:g.16099C>T
• NM_001278719.2:c.107C>T
• NM_001328674.2:c.1751C>T
• NM_001328675.2:c.1751C>T
• NM_014849.5:c.1751C>TMANE SELECT
• NP_001265648.1:p.Pro36Leu
• NP_001315603.1:p.Pro584Leu
• NP_001315604.1:p.Pro584Leu
• NP_055664.3:p.Pro584Leu
• NC_000001.10:g.149878336G>A
• NM_014849.3:c.1751C>T

This HGVS expression did not pass validation

Protein change:

P36L

Molecular consequence:

• NM_001278719.2:c.107C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001328674.2:c.1751C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001328675.2:c.1751C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014849.5:c.1751C>T - missense variant - [Sequence Ontology: SO:0001583]