ClinVar

NM_006772.3(SYNGAP1):c.2230C>T (p.Gln744Ter)

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: 33441695 (on Assembly GRCh38)
• Chr6: 33409472 (on Assembly GRCh37)

Preferred name:

NM_006772.3(SYNGAP1):c.2230C>T (p.Gln744Ter)

HGVS:

• NC_000006.12:g.33441695C>T
• NG_016137.2:g.26626C>T
• NM_001130066.2:c.2230C>T
• NM_006772.3:c.2230C>TMANE SELECT
• NP_001123538.1:p.Gln744Ter
• NP_006763.2:p.Gln744Ter
• LRG_1193t1:c.2230C>T
• LRG_1193:g.26626C>T
• LRG_1193p1:p.Gln744Ter
• NC_000006.11:g.33409472C>T

This HGVS expression did not pass validation

Protein change:

Q744*

Links:

dbSNP: rs1554121947

NCBI 1000 Genomes Browser:

rs1554121947

Molecular consequence:

• NM_001130066.2:c.2230C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_006772.3:c.2230C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1