ClinVar

NM_001372066.1(TFAP2A):c.702G>A (p.Ala234=)

Genes:

LOC121740638:BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476 [Gene]
TFAP2A-AS2:TFAP2A antisense RNA 2 [Gene - OMIM - HGNC]
TFAP2A:transcription factor AP-2 alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.3

Genomic location:

• Chr6: 10404576 (on Assembly GRCh38)
• Chr6: 10404809 (on Assembly GRCh37)

Preferred name:

NM_001372066.1(TFAP2A):c.702G>A (p.Ala234=)

HGVS:

• NC_000006.12:g.10404576C>T
• NG_016151.1:g.19989G>A
• NG_075700.3:g.1633C>T
• NM_001032280.3:c.678G>A
• NM_001042425.3:c.684G>A
• NM_001372066.1:c.702G>AMANE SELECT
• NP_001027451.1:p.Ala226=
• NP_001035890.1:p.Ala228=
• NP_001358995.1:p.Ala234=
• NC_000006.11:g.10404809C>T
• NR_145448.1:n.75C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_145448.1:n.75C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001032280.3:c.678G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042425.3:c.684G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001372066.1:c.702G>A - synonymous variant - [Sequence Ontology: SO:0001819]