ClinVar

NM_015570.4(AUTS2):c.1A>G (p.Met1Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.22

Genomic location:

• Chr7: 69599654 (on Assembly GRCh38)
• Chr7: 69064640 (on Assembly GRCh37)

Preferred name:

NM_015570.4(AUTS2):c.1A>G (p.Met1Val)

HGVS:

• NC_000007.14:g.69599654A>G
• NG_034133.1:g.5736A>G
• NG_177996.1:g.36A>G
• NM_001127231.3:c.1A>G
• NM_001127232.3:c.1A>G
• NM_015570.4:c.1A>GMANE SELECT
• NP_001120703.1:p.Met1Val
• NP_001120704.1:p.Met1Val
• NP_056385.1:p.Met1Val
• NC_000007.13:g.69064640A>G

This HGVS expression did not pass validation

Protein change:

M1V

Molecular consequence:

• NM_001127231.3:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001127232.3:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_015570.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001127231.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127232.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_015570.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]