RGD:597737013 Rat Genome Database

RGD:597737013 Rat Genome Database

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Variant: RGD:597737013 - Homo sapiens

RGD ID:

597737013

ClinVar ID:

CV3718650

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	6	10,410,349
GRCh38	6	10,410,116

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001032280.3:c.247C>T NM_001042425.3:c.253C>T NM_001372066.1:c.271C>T NG_016151.1:g.14449C>T More...	05/08/2024	missense variant	uncertain significance	BOF SYNDROME; BOFS syndrome; Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging; Branchio-Oculo-Facial Syndrome; HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME; LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3718650	Human	branchiooculofacial syndrome		IAGP		8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:25741868

Gene Symbol:	TFAP2A
Accession:	NM_001042425
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	85

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSILAKMGDWQDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNP LHAQSQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVED PGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSPPECL NASLLGGVLRRAKSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVAEFLNRQ HSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTE ALKAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK*

Gene Symbol:	TFAP2A
Accession:	NM_001032280
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	83

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLVHSFSAMDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLH AQSQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPG INIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSPPECLNA SLLGGVLRRAKSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVAEFLNRQHS DPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEAL KAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK*

Gene Symbol:	TFAP2A
Accession:	NM_001372066
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	91

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKMLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVND PYSLNPLHAQSQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEE VPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRL SPPECLNASLLGGVLRRAKSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVA EFLNRQHSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTAL QNYLTEALKAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV005037730	CLINVAR
MedGen	C0376524	CLINVAR
NCBI Gene	TFAP2A	CLINVAR
OMIM	107580	CLINVAR
	113620	CLINVAR