ClinVar

NM_001372044.2(SHANK3):c.3880C>G (p.Gln1294Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50721488 (on Assembly GRCh38)
• Chr22: 51159916 (on Assembly GRCh37)

Preferred name:

NM_001372044.2(SHANK3):c.3880C>G (p.Gln1294Glu)

HGVS:

• NC_000022.11:g.50721488C>G
• NG_070230.1:g.57272C>G
• NM_001372044.2:c.3880C>GMANE SELECT
• NM_033517.1:c.3655C>G
• NP_001358973.1:p.Gln1294Glu
• NP_277052.1:p.Gln1219Glu
• NC_000022.10:g.51159916C>G

This HGVS expression did not pass validation

Protein change:

Q1219E

Molecular consequence:

• NM_001372044.2:c.3880C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_033517.1:c.3655C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1