ClinVar

NM_003085.5(SNCB):c.121+6T>C

Gene:

SNCB:synuclein beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.2

Genomic location:

• Chr5: 176629528 (on Assembly GRCh38)
• Chr5: 176056529 (on Assembly GRCh37)

Preferred name:

NM_003085.5(SNCB):c.121+6T>C

HGVS:

• NC_000005.10:g.176629528A>G
• NG_012131.1:g.6029T>C
• NM_001001502.3:c.121+6T>C
• NM_001318034.2:c.121+6T>C
• NM_001318035.2:c.121+6T>C
• NM_001318036.2:c.121+6T>C
• NM_001318037.2:c.121+6T>C
• NM_001363140.2:c.121+6T>C
• NM_003085.5:c.121+6T>CMANE SELECT
• NC_000005.9:g.176056529A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs4868669

NCBI 1000 Genomes Browser:

rs4868669

Molecular consequence:

• NM_001001502.3:c.121+6T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318034.2:c.121+6T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318035.2:c.121+6T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318036.2:c.121+6T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318037.2:c.121+6T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363140.2:c.121+6T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_003085.5:c.121+6T>C - intron variant - [Sequence Ontology: SO:0001627]