rs143363077 Rat Genome Database

rs143363077 Rat Genome Database

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Variant: rs143363077 - Homo sapiens

RGD ID:

15098822

RS ID:

rs143363077

ClinVar ID:

CV721615

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC121740638 TFAP2A TFAP2A-AS2

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	6	10,404,932
GRCh38	6	10,404,699

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000006.11:g.10404932G>A NM_001042425.3:c.561C>T NC_000006.11:g.10404932G>A NC_000006.12:g.10404699G>A More...	09/08/2021	non-coding transcript variant	benign\|likely benign	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; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; TFAP2A-related condition

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV721615	Human	branchiooculofacial syndrome		IAGP		8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:25741868 and PMID:28492532

Gene Symbol:	TFAP2A
Accession:	NM_001372066
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	193

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

Gene Symbol:	TFAP2A
Accession:	NM_001042425
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	187

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

Gene Symbol:	TFAP2A
Accession:	NM_001032280
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	185

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

Gene Symbol:	TFAP2A-AS2
Accession:	NR_145448
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000888418	CLINVAR
	RCV002505261	CLINVAR
	RCV003940604	CLINVAR
dbSNP (RS)	rs143363077	CLINVAR
MedGen	C0376524	CLINVAR
	C3661900	CLINVAR
NCBI Gene	LOC121740638	CLINVAR
	TFAP2A	CLINVAR
	TFAP2A-AS2	CLINVAR
OMIM	107580	CLINVAR
	113620	CLINVAR
	617136	CLINVAR