rs2114014460 Rat Genome Database

rs2114014460 Rat Genome Database

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Variant: rs2114014460 - Homo sapiens

RGD ID:

153345564

RS ID:

rs2114014460

ClinVar ID:

CV1691107

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC121740638 TFAP2A TFAP2A-AS2

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	6	10,404,824
GRCh38	6	10,404,591

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001372066.1:c.687C>G NR_145448.1:n.90G>C NP_001027451.1:p.Tyr221Ter NP_001035890.1:p.Tyr223Ter More...	12/27/2023	non-coding transcript variant	likely pathogenic	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; TFAP2A-related condition

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1691107	Human	branchiooculofacial syndrome		IAGP		8554872	ClinVar Annotator: match by term: Branchiooculofacial syndrome	ClinVar	PMID:23578821 and PMID:25741868

Gene Symbol:	TFAP2A
Accession:	NM_001042425
Location:	EXON
Amino Acid Prediction:	Y to Y (synonymous)
Amino Acid Position:	223

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

Gene Symbol:	TFAP2A
Accession:	NM_001372066
Location:	EXON
Amino Acid Prediction:	Y to Y (synonymous)
Amino Acid Position:	229

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

Gene Symbol:	TFAP2A
Accession:	NM_001032280
Location:	EXON
Amino Acid Prediction:	Y to Y (synonymous)
Amino Acid Position:	221

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:23578821	PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV002272588	CLINVAR
	RCV003933735	CLINVAR
dbSNP (RS)	rs2114014460	CLINVAR
MedGen	C0376524	CLINVAR
NCBI Gene	LOC121740638	CLINVAR
	TFAP2A	CLINVAR
	TFAP2A-AS2	CLINVAR
OMIM	107580	CLINVAR
	113620	CLINVAR
	617136	CLINVAR