ClinVar

NM_130811.4(SNAP25):c.-63-21820G>A

Gene:

SNAP25:synaptosome associated protein 25 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p12.2

Genomic location:

• Chr20: 10253609 (on Assembly GRCh38)
• Chr20: 10234257 (on Assembly GRCh37)

Preferred name:

NM_130811.4(SNAP25):c.-63-21820G>A

HGVS:

• NC_000020.11:g.10253609G>A
• NG_029626.1:g.39781G>A
• NM_001322902.2:c.-63-21820G>A
• NM_001322903.2:c.-64+19272G>A
• NM_001322904.2:c.-63-21820G>A
• NM_001322905.2:c.-64+9575G>A
• NM_001322906.2:c.-64+15583G>A
• NM_001322907.2:c.-63-21820G>A
• NM_001322908.2:c.-64+8716G>A
• NM_001322909.2:c.-108-5748G>A
• NM_001322910.2:c.-63-21820G>A
• NM_003081.5:c.-63-21820G>A
• NM_130811.4:c.-63-21820G>AMANE SELECT
• NC_000020.10:g.10234257G>A
• NM_130811.2:c.-63-21820G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs363050

NCBI 1000 Genomes Browser:

rs363050

Molecular consequence:

• NM_001322902.2:c.-63-21820G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322903.2:c.-64+19272G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322904.2:c.-63-21820G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322905.2:c.-64+9575G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322906.2:c.-64+15583G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322907.2:c.-63-21820G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322908.2:c.-64+8716G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322909.2:c.-108-5748G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001322910.2:c.-63-21820G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_003081.5:c.-63-21820G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_130811.4:c.-63-21820G>A - intron variant - [Sequence Ontology: SO:0001627]