ClinVar

NM_001372044.2(SHANK3):c.4173G>A (p.Gly1391=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50721781 (on Assembly GRCh38)
• Chr22: 51160209 (on Assembly GRCh37)

Preferred name:

NM_001372044.2(SHANK3):c.4173G>A (p.Gly1391=)

HGVS:

• NC_000022.11:g.50721781G>A
• NG_070230.1:g.57565G>A
• NM_001372044.2:c.4173G>AMANE SELECT
• NM_033517.1:c.3948G>A
• NP_001358973.1:p.Gly1391=
• NP_277052.1:p.Gly1316=
• NC_000022.10:g.51160209G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001372044.2:c.4173G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033517.1:c.3948G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1