RGD:401935200 Rat Genome Database

RGD:401935200 Rat Genome Database

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Variant: RGD:401935200 - Homo sapiens

RGD ID:

401935200

ClinVar ID:

CV2805498

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	1	1,452,646
GRCh38	1	1,517,266

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001170535.3:c.283-45G>A NM_018188.5:c.382G>A NM_001170536.3:c.46-45G>A NG_053035.1:g.10124G>A More...	09/20/2024	intron variant	likely benign\|uncertain significance	none provided; Optic atrophy-peripheral neuropathy-developmental delay syndrome; PHRINL SYNDROME; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2805498	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868
CV2805498	Human	Harel-Yoon syndrome		IAGP		8554872	ClinVar Annotator: match by term: Harel-Yoon syndrome	ClinVar	PMID:25741868

Gene Symbol:	ATAD3A
Accession:	NM_018188
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	128

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSWLFGINKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAKAARELEHSRYAKDALNLAQM QEQTLQLEQQSKLKMRLEALSLLHTLVWAWSLCRAGAVQTQERLSGSTSPEQVPAGECCALQEYEAAVEQLKSEQIRAQA EERRKTLSEETRQHQARAQYQDKLARQRYEDQLKQQQLLNEENLRKQEESVQKQEAMRRATVEREMELRHKNEMLRVEAE ARARAKAERENADIIREQIRLKAAEHRQTVLESIRTAGTLFGEGFRAFVTDWDKVTATVAGLTLLAVGVYSAKNATLVAG RFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDALEGVVLSPSLEARVRDIAIATRNTKKNRSLYRNILMYG PPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWANTSRRGLLLFVDEADAFLRKRATEKISEDLRAT LNAFLYRTGQHSNKFMLVLASNQPEQFDWAINDRINEMVHFDLPGQEERERLVRMYFDKYVLKPATEGKQRLKLAQFDYG RKCSEVARLTEGMSGREIAQLAVSWQATAYASEDGVLTEAMMDTRVQDAVQQHQQKMCWLKAEGPGRGDEPSPS*

Gene Symbol:	ATAD3A
Accession:	XM_047424290
Location:	INTRON

Gene Symbol:	ATAD3A
Accession:	NM_001170535
Location:	INTRON

Gene Symbol:	ATAD3A
Accession:	XM_047424289
Location:	INTRON

Gene Symbol:	ATAD3A
Accession:	XM_047424288
Location:	INTRON

Gene Symbol:	ATAD3A
Accession:	NM_001170536
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV003412623	CLINVAR
	RCV004364472	CLINVAR
	RCV004723308	CLINVAR
MedGen	C0950123	CLINVAR
	C3661900	CLINVAR
	C4310677	CLINVAR
NCBI Gene	ATAD3A	CLINVAR
OMIM	612316	CLINVAR
	617183	CLINVAR
	618810	CLINVAR