ClinVar

NM_001323032.3(SV2B):c.1598A>C (p.Asp533Ala)

Gene:

SV2B:synaptic vesicle glycoprotein 2B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 91284111 (on Assembly GRCh38)
• Chr15: 91827341 (on Assembly GRCh37)

Preferred name:

NM_001323032.3(SV2B):c.1598A>C (p.Asp533Ala)

HGVS:

• NC_000015.10:g.91284111A>C
• NG_051558.1:g.189391A>C
• NM_001167580.3:c.1145A>C
• NM_001323031.2:c.1598A>C
• NM_001323032.3:c.1598A>CMANE SELECT
• NM_001323033.3:c.1265A>C
• NM_001323034.3:c.1507+2250A>C
• NM_001323036.3:c.1169A>C
• NM_001323037.3:c.1598A>C
• NM_001323038.3:c.1598A>C
• NM_001323039.3:c.1598A>C
• NM_001323040.3:c.1145A>C
• NM_014848.7:c.1598A>C
• NP_001161052.1:p.Asp382Ala
• NP_001309960.1:p.Asp533Ala
• NP_001309961.1:p.Asp533Ala
• NP_001309962.1:p.Asp422Ala
• NP_001309965.1:p.Asp390Ala
• NP_001309966.1:p.Asp533Ala
• NP_001309967.1:p.Asp533Ala
• NP_001309968.1:p.Asp533Ala
• NP_001309969.1:p.Asp382Ala
• NP_055663.1:p.Asp533Ala
• NC_000015.9:g.91827341A>C
• NM_014848.4:c.1598A>C

This HGVS expression did not pass validation

Protein change:

D382A

Molecular consequence:

• NM_001323034.3:c.1507+2250A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001167580.3:c.1145A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323031.2:c.1598A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323032.3:c.1598A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323033.3:c.1265A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323036.3:c.1169A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323037.3:c.1598A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323038.3:c.1598A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323039.3:c.1598A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323040.3:c.1145A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014848.7:c.1598A>C - missense variant - [Sequence Ontology: SO:0001583]