ClinVar

NM_001032221.6(STXBP1):c.6C>T (p.Ala2=)

Genes:

LOC130002651:ATAC-STARR-seq lymphoblastoid silent region 20307 [Gene]
STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127612409 (on Assembly GRCh38)
• Chr9: 130374688 (on Assembly GRCh37)

Preferred name:

NM_001032221.6(STXBP1):c.6C>T (p.Ala2=)

HGVS:

• NC_000009.12:g.127612409C>T
• NG_016623.1:g.5203C>T
• NM_001032221.6:c.6C>TMANE SELECT
• NM_001374306.2:c.6C>T
• NM_001374307.2:c.-132C>T
• NM_001374308.2:c.-227C>T
• NM_001374309.2:c.-6+362C>T
• NM_001374310.2:c.-227C>T
• NM_001374311.2:c.-132C>T
• NM_001374312.2:c.-139C>T
• NM_001374313.2:c.6C>T
• NM_001374314.1:c.6C>T
• NM_001374315.2:c.6C>T
• NM_003165.6:c.6C>T
• NP_001027392.1:p.Ala2=
• NP_001361235.1:p.Ala2=
• NP_001361242.1:p.Ala2=
• NP_001361243.1:p.Ala2=
• NP_001361244.1:p.Ala2=
• NP_003156.1:p.Ala2=
• NC_000009.11:g.130374688C>T
• NM_003165.3:c.6C>T
• p.Ala2Ala

This HGVS expression did not pass validation

Links:

dbSNP: rs144094037

NCBI 1000 Genomes Browser:

rs144094037

Molecular consequence:

• NM_001374307.2:c.-132C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374308.2:c.-227C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374310.2:c.-227C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374311.2:c.-132C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374312.2:c.-139C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001374309.2:c.-6+362C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001032221.6:c.6C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374306.2:c.6C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374313.2:c.6C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374314.1:c.6C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374315.2:c.6C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003165.6:c.6C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1