ClinVar

NM_001372066.1(TFAP2A):c.713G>C (p.Arg238Pro)

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: 10404565 (on Assembly GRCh38)
• Chr6: 10404798 (on Assembly GRCh37)

Preferred name:

NM_001372066.1(TFAP2A):c.713G>C (p.Arg238Pro)

HGVS:

• NC_000006.12:g.10404565C>G
• NG_016151.1:g.20000G>C
• NM_001032280.3:c.689G>C
• NM_001042425.3:c.695G>C
• NM_001372066.1:c.713G>CMANE SELECT
• NP_001027451.1:p.Arg230Pro
• NP_001035890.1:p.Arg232Pro
• NP_001358995.1:p.Arg238Pro
• NC_000006.11:g.10404798C>G
• NR_145448.1:n.64C>G

This HGVS expression did not pass validation

Protein change:

R230P

Links:

dbSNP: rs2114014389

NCBI 1000 Genomes Browser:

rs2114014389

Molecular consequence:

• NM_001032280.3:c.689G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042425.3:c.695G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372066.1:c.713G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_145448.1:n.64C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1