RGD:155803620 Rat Genome Database

RGD:155803620 Rat Genome Database

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Variant: RGD:155803620 - Homo sapiens

RGD ID:

155803620

ClinVar ID:

CV1858183

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	1	1,453,151
GRCh38	1	1,517,771

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001170536.3:c.203A>G NM_001170535.3:c.440A>G NM_018188.5:c.584A>G NG_053035.1:g.10629A>G More...	05/27/2022	missense variant	uncertain significance	none provided

Gene Symbol:	ATAD3A
Accession:	XM_047424288
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	93

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHQAVCWGWCIVTPGYAKDALNLAQMQEQTLQLEQQSKLKEYEAAVEQLKSEQIRAQAEERRKTLSEETRQHQARAQYQD KLARQRYEDQLKRQQLLNEENLRKQEESVQKQEAMRRATVEREMELRHKNEMLRVEAEARARAKAERENADIIREQIRLK AAEHRQTVLESIRTAGTLFGEGFRAFVTDWDKVTATVAGLTLLAVGVYSAKNATLVAGRFIEARLGKPSLVRETSRITVL EALRHPIQVSRRLLSRPQDALEGVVLSPSLEARVRDIAIATRNTKKNRSLYRNILMYGPPGTGKTLFAKKLALHSGMDYA IMTGGDVAPMGREGVTAMHKLFDWANTSRRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLVLASN QPEQFDWAINDRINEMVHFDLPGQEERERLVRMYFDKYVLKPATEGKQRLKLAQFDYGRKCSEVARLTEGMSGREIAQLA VSWQATAYASEDGVLTEAMMDTRVQDAVQQHQQKMCWLKAEGPGRGDEPSPS*

Gene Symbol:	ATAD3A
Accession:	NM_001170536
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQEQTLQLEQQSKLKEYEAAVEQLKSEQIRAQAEERRKTLSEETRQHQARAQYQDKLARQRYEDQLKRQQLLNEENLRKQ EESVQKQEAMRRATVEREMELRHKNEMLRVEAEARARAKAERENADIIREQIRLKAAEHRQTVLESIRTAGTLFGEGFRA FVTDWDKVTATVAGLTLLAVGVYSAKNATLVAGRFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDALEGVV LSPSLEARVRDIAIATRNTKKNRSLYRNILMYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWA NTSRRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLVLASNQPEQFDWAINDRINEMVHFDLPGQE ERERLVRMYFDKYVLKPATEGKQRLKLAQFDYGRKCSEVARLTEGMSGREIAQLAVSWQATAYASEDGVLTEAMMDTRVQ DAVQQHQQKMCWLKAEGPGRGDEPSPS*

Gene Symbol:	ATAD3A
Accession:	XM_047424290
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	147

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSWLFGINKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAKAARELEHSRYAKDALNLAQM QEQTLQLEQQSKLKEYEAAVEQLKSEQIRAQAEERRKTLSEETRQHQARAQYQDKLARQRYEDQLKRQQLLNEENLRKQE ESVQKQEAMRRATVEREMELRHKNEMLRVEAEARARAKAERENADIIREQIRLKAAEHRQTVLESIRTAGTLFGEGFRAF VTDWDKVTATVAGLTLLAVGVYSAKNATLVAGRFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDALEGVVL SPSLEARVRDIAIATRNTKKNRSLYRNILMYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWAN TSRRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNNPSHVSHGGSSPAGRPWLTPQARWAPRSAAAGGCS LEP*

Gene Symbol:	ATAD3A
Accession:	NM_018188
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	195

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

Gene Symbol:	ATAD3A
Accession:	NM_001170535
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	147

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSWLFGINKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAKAARELEHSRYAKDALNLAQM QEQTLQLEQQSKLKEYEAAVEQLKSEQIRAQAEERRKTLSEETRQHQARAQYQDKLARQRYEDQLKRQQLLNEENLRKQE ESVQKQEAMRRATVEREMELRHKNEMLRVEAEARARAKAERENADIIREQIRLKAAEHRQTVLESIRTAGTLFGEGFRAF VTDWDKVTATVAGLTLLAVGVYSAKNATLVAGRFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDALEGVVL SPSLEARVRDIAIATRNTKKNRSLYRNILMYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWAN TSRRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLVLASNQPEQFDWAINDRINEMVHFDLPGQEE RERLVRMYFDKYVLKPATEGKQRLKLAQFDYGRKCSEVARLTEGMSGREIAQLAVSWQATAYASEDGVLTEAMMDTRVQD AVQQHQQKMCWLKAEGPGRGDEPSPS*

Gene Symbol:	ATAD3A
Accession:	XM_047424289
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	147

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSWLFGINKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAKAARELEHSRYAKDALNLAQM QEQTLQLEQQSKLKEYEAAVEQLKSEQIRAQAEERRKTLSEETRQHQARAQYQDKLARQRYEDQLKRQQLLNEENLRKQE ESVQKQEAMRRATVEREMELRHKNEMLRVEAEARARAKAERENADIIREQIRLKAAEHRQTVLESIRTAGTLFGEGFRAF VTDWDKVTATVAGLTLLAVGVYSAKNATLVAGRFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDALEGVVL SPSLEARVRDIAIATRNTKKNRSLYRNILMYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWAN TSRRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLVLASNQPEQFDWAINDRINEMVHFDLPGQEE RERLAPEAGPV*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV002462492	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	ATAD3A	CLINVAR
OMIM	612316	CLINVAR