ClinVar

NM_001308330.2(STXBP5L):c.2491G>A (p.Val831Ile)

Gene:

STXBP5L:syntaxin binding protein 5L [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.33

Genomic location:

• Chr3: 121381436 (on Assembly GRCh38)
• Chr3: 121100283 (on Assembly GRCh37)

Preferred name:

NM_001308330.2(STXBP5L):c.2491G>A (p.Val831Ile)

HGVS:

• NC_000003.12:g.121381436G>A
• NG_052890.1:g.478234G>A
• NM_001308330.2:c.2491G>AMANE SELECT
• NM_001348343.2:c.2563G>A
• NM_001348344.2:c.2491G>A
• NM_001348345.2:c.2491G>A
• NM_014980.3:c.2563G>A
• NP_001295259.1:p.Val831Ile
• NP_001335272.1:p.Val855Ile
• NP_001335273.1:p.Val831Ile
• NP_001335274.1:p.Val831Ile
• NP_055795.1:p.Val855Ile
• NC_000003.11:g.121100283G>A
• NM_014980.2:c.2563G>A
• NR_145516.2:n.2829G>A

This HGVS expression did not pass validation

Protein change:

V831I

Molecular consequence:

• NM_001308330.2:c.2491G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348343.2:c.2563G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348344.2:c.2491G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001348345.2:c.2491G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014980.3:c.2563G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_145516.2:n.2829G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]