ClinVar

NM_006772.3(SYNGAP1):c.2520T>C (p.Ser840=)

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: 33443072 (on Assembly GRCh38)
• Chr6: 33410849 (on Assembly GRCh37)

Preferred name:

NM_006772.3(SYNGAP1):c.2520T>C (p.Ser840=)

HGVS:

• NC_000006.12:g.33443072T>C
• NG_016137.2:g.28003T>C
• NM_001130066.2:c.2478T>C
• NM_006772.3:c.2520T>CMANE SELECT
• NP_001123538.1:p.Ser826=
• NP_006763.2:p.Ser840=
• LRG_1193t1:c.2520T>C
• LRG_1193:g.28003T>C
• LRG_1193p1:p.Ser840=
• NC_000006.11:g.33410849T>C
• NM_006772.2:c.2520T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs778341826

NCBI 1000 Genomes Browser:

rs778341826

Molecular consequence:

• NM_001130066.2:c.2478T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006772.3:c.2520T>C - synonymous variant - [Sequence Ontology: SO:0001819]