ClinVar

NM_006772.3(SYNGAP1):c.3794+74G>T

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: 33446860 (on Assembly GRCh38)
• Chr6: 33414637 (on Assembly GRCh37)

Preferred name:

NM_006772.3(SYNGAP1):c.3794+74G>T

HGVS:

• NC_000006.12:g.33446860G>T
• NG_016137.2:g.31791G>T
• NM_001130066.2:c.3746+74G>T
• NM_006772.3:c.3794+74G>TMANE SELECT
• LRG_1193t1:c.3794+74G>T
• LRG_1193:g.31791G>T
• NC_000006.11:g.33414637G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs3119019

NCBI 1000 Genomes Browser:

rs3119019

Molecular consequence:

• NM_001130066.2:c.3746+74G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006772.3:c.3794+74G>T - intron variant - [Sequence Ontology: SO:0001627]