ClinVar

NM_001372044.2(SHANK3):c.4038C>T (p.Gly1346=)

Gene:

SHANK3:SH3 and multiple ankyrin repeat domains 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50721646 (on Assembly GRCh38)
• Chr22: 51160074 (on Assembly GRCh37)

Preferred name:

NM_001372044.2(SHANK3):c.4038C>T (p.Gly1346=)

HGVS:

• NC_000022.11:g.50721646C>T
• NG_070230.1:g.57430C>T
• NM_001372044.2:c.4038C>TMANE SELECT
• NM_033517.1:c.3813C>T
• NP_001358973.1:p.Gly1346=
• NP_277052.1:p.Gly1271=
• NC_000022.10:g.51160074C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs367676023

NCBI 1000 Genomes Browser:

rs367676023

Molecular consequence:

• NM_001372044.2:c.4038C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033517.1:c.3813C>T - synonymous variant - [Sequence Ontology: SO:0001819]