ClinVar

NM_006772.3(SYNGAP1):c.1154C>G (p.Ser385Trp)

Genes:

SYNGAP1-AS1:SYNGAP1 antisense RNA 1 [Gene - HGNC]
SYNGAP1:synaptic Ras GTPase activating protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.32

Genomic location:

• Chr6: 33438059 (on Assembly GRCh38)
• Chr6: 33405836 (on Assembly GRCh37)

Preferred name:

NM_006772.3(SYNGAP1):c.1154C>G (p.Ser385Trp)

HGVS:

• NC_000006.12:g.33438059C>G
• NG_016137.2:g.22990C>G
• NM_001130066.2:c.1154C>G
• NM_006772.3:c.1154C>GMANE SELECT
• NP_001123538.1:p.Ser385Trp
• NP_006763.2:p.Ser385Trp
• LRG_1193t1:c.1154C>G
• LRG_1193:g.22990C>G
• LRG_1193p1:p.Ser385Trp
• NC_000006.11:g.33405836C>G
• NM_006772.2:c.1154C>G

This HGVS expression did not pass validation

Protein change:

S385W

Links:

dbSNP: rs766006911

NCBI 1000 Genomes Browser:

rs766006911

Molecular consequence:

• NM_001130066.2:c.1154C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_006772.3:c.1154C>G - missense variant - [Sequence Ontology: SO:0001583]