ClinVar

NM_001372066.1(TFAP2A):c.930C>T (p.Cys310=)

Gene:

TFAP2A:transcription factor AP-2 alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 10400549 (on Assembly GRCh38)
• Chr6: 10400782 (on Assembly GRCh37)

Preferred name:

NM_001372066.1(TFAP2A):c.930C>T (p.Cys310=)

HGVS:

• NC_000006.12:g.10400549G>A
• NG_016151.1:g.24016C>T
• NM_001032280.3:c.906C>T
• NM_001042425.3:c.912C>T
• NM_001372066.1:c.930C>TMANE SELECT
• NP_001027451.1:p.Cys302=
• NP_001035890.1:p.Cys304=
• NP_001358995.1:p.Cys310=
• NC_000006.11:g.10400782G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001032280.3:c.906C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042425.3:c.912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001372066.1:c.930C>T - synonymous variant - [Sequence Ontology: SO:0001819]