ClinVar

NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50720741 (on Assembly GRCh38)
• Chr22: 51159169 (on Assembly GRCh37)

Preferred name:

NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)

HGVS:

• NC_000022.11:g.50720741G>T
• NG_070230.1:g.56525G>T
• NM_001372044.2:c.3133G>TMANE SELECT
• NM_033517.1:c.2908G>T
• NP_001358973.1:p.Ala1045Ser
• NP_277052.1:p.Ala970Ser
• NC_000022.10:g.51159169G>T

This HGVS expression did not pass validation

Protein change:

A1045S

Links:

dbSNP: rs530255181

NCBI 1000 Genomes Browser:

rs530255181

Molecular consequence:

• NM_001372044.2:c.3133G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033517.1:c.2908G>T - missense variant - [Sequence Ontology: SO:0001583]