ClinVar

NM_015570.4(AUTS2):c.356C>T (p.Thr119Met)

Gene:

AUTS2:activator of transcription and developmental regulator AUTS2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.22

Genomic location:

• Chr7: 69899332 (on Assembly GRCh38)
• Chr7: 69364318 (on Assembly GRCh37)

Preferred name:

NM_015570.4(AUTS2):c.356C>T (p.Thr119Met)

HGVS:

• NC_000007.14:g.69899332C>T
• NG_034133.1:g.305414C>T
• NM_001127231.3:c.356C>T
• NM_001127232.3:c.356C>T
• NM_015570.4:c.356C>TMANE SELECT
• NP_001120703.1:p.Thr119Met
• NP_001120704.1:p.Thr119Met
• NP_056385.1:p.Thr119Met
• NC_000007.13:g.69364318C>T

This HGVS expression did not pass validation

Protein change:

T119M

Molecular consequence:

• NM_001127231.3:c.356C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127232.3:c.356C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015570.4:c.356C>T - missense variant - [Sequence Ontology: SO:0001583]