ClinVar

NM_001372044.2(SHANK3):c.4170C>T (p.Asn1390=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50721778 (on Assembly GRCh38)
• Chr22: 51160206 (on Assembly GRCh37)

Preferred name:

NM_001372044.2(SHANK3):c.4170C>T (p.Asn1390=)

HGVS:

• NC_000022.11:g.50721778C>T
• NG_070230.1:g.57562C>T
• NM_001372044.2:c.4170C>TMANE SELECT
• NM_033517.1:c.3945C>T
• NP_001358973.1:p.Asn1390=
• NC_000022.10:g.51160206C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs558643743

NCBI 1000 Genomes Browser:

rs558643743

Molecular consequence:

• NM_001372044.2:c.4170C>T - synonymous variant - [Sequence Ontology: SO:0001819]