ClinVar

NM_001032221.6(STXBP1):c.1702+10C>T

Gene:

STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127682570 (on Assembly GRCh38)
• Chr9: 130444849 (on Assembly GRCh37)

Preferred name:

NM_001032221.6(STXBP1):c.1702+10C>T

HGVS:

• NC_000009.12:g.127682570C>T
• NG_016623.1:g.75364C>T
• NM_001032221.6:c.1702+10C>TMANE SELECT
• NM_001374306.2:c.1693+10C>T
• NM_001374307.2:c.1660+10C>T
• NM_001374308.2:c.1660+10C>T
• NM_001374309.2:c.1660+10C>T
• NM_001374310.2:c.1660+10C>T
• NM_001374311.2:c.1660+10C>T
• NM_001374312.2:c.1660+10C>T
• NM_001374313.2:c.1702+10C>T
• NM_001374314.1:c.1707C>T
• NM_001374315.2:c.1594+10C>T
• NM_003165.6:c.1702+10C>T
• NP_001361243.1:p.Pro569=
• NC_000009.11:g.130444849C>T
• NM_001032221.3:c.1702+10C>T
• NM_003165.2:c.1702+10C>T
• NM_003165.3:c.1702+10C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs147607230

NCBI 1000 Genomes Browser:

rs147607230

Molecular consequence:

• NM_001032221.6:c.1702+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374306.2:c.1693+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374307.2:c.1660+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374308.2:c.1660+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374309.2:c.1660+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374310.2:c.1660+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374311.2:c.1660+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374312.2:c.1660+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374313.2:c.1702+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374315.2:c.1594+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003165.6:c.1702+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001374314.1:c.1707C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1