ClinVar

NM_001372044.2(SHANK3):c.3372C>T (p.Pro1124=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50720980 (on Assembly GRCh38)
• Chr22: 51159408 (on Assembly GRCh37)

Preferred name:

NM_001372044.2(SHANK3):c.3372C>T (p.Pro1124=)

HGVS:

• NC_000022.11:g.50720980C>T
• NG_070230.1:g.56764C>T
• NM_001372044.2:c.3372C>TMANE SELECT
• NM_033517.1:c.3147C>T
• NP_001358973.1:p.Pro1124=
• NP_277052.1:p.Pro1049=
• NC_000022.10:g.51159408C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200572899

NCBI 1000 Genomes Browser:

rs200572899

Molecular consequence:

• NM_001372044.2:c.3372C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033517.1:c.3147C>T - synonymous variant - [Sequence Ontology: SO:0001819]