RGD:405799994 Rat Genome Database

RGD:405799994 Rat Genome Database

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Variant: RGD:405799994 - Homo sapiens

RGD ID:

405799994

ClinVar ID:

CV3341482

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

UBOX5 UBOX5-AS1

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	20	3,102,305
GRCh38	20	3,121,659

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001267584.2:c.980G>A NM_014948.4:c.980G>A NM_199415.3:c.980G>A NC_000020.11:g.3121659C>T More...	12/27/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	UBOX5
Accession:	NM_014948
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	327

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVINLCLPQFRPRIHCNKISADGYEVENLISEDLTKRSHGFRTEYFIKPPVYVTVSFPFNVEICRINIDLTAGGGQNVTG LEMYTSASSSRVSWNTPQCRTLGPAEPSVPDKEAFTLVGKVLLKNQSQVVFSHRGFKARPPFGAMEATLPSPAVVAQELW NKGALSLSHVAHLRICITHVTGGGIPCIKRLEVWGQPAKTCSQEVIDSILLVTSENLPQDVALQAPALPMESDCDPGDQP ESQQAPSSLQKLAEIIQDVPEEFLDPITLEIMPCPMLLPSGKVIDQSTLEKCNRSEATWGRVPSDPFTGVAFTPHSQPLP HPSLKALIDHFLLQHSIPGCHLLGRAQTALAVIPSSIVLPSQKRKIEQAEHVPDSNFGVNASCFSATSPLVLPTTSEHTA KKMKATNEPSLTHMDCSTGPLSHEQKLSQSLEIALASTLGSMPSFTARLTRGQLQHLGTRGSNTSWRPGTGSEQPGSILG PECASCKRVFSPYFKKEPVYQLPCGHLLCRPCLGEKQRSLPMTCTACQRPVASQDVLRVHF*

Gene Symbol:	UBOX5
Accession:	NM_199415
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	327

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVINLCLPQFRPRIHCNKISADGYEVENLISEDLTKRSHGFRTEYFIKPPVYVTVSFPFNVEICRINIDLTAGGGQNVTG LEMYTSASSSRVSWNTPQCRTLGPAEPSVPDKEAFTLVGKVLLKNQSQVVFSHRGFKARPPFGAMEATLPSPAVVAQELW NKGALSLSHVAHLRICITHVTGGGIPCIKRLEVWGQPAKTCSQEVIDSILLVTSENLPQDVALQAPALPMESDCDPGDQP ESQQAPSSLQKLAEIIQDVPEEFLDPITLEIMPCPMLLPSGKVIDQSTLEKCNRSEATWGRVPSDPFTGVAFTPHSQPLP HPSLKALIDHFLLQHSIPGCHLLGRAQTALAVIPSSIVLPSQKRKIEQAEHVPDSNFGVNASCFSATSPLVLPTTSEHTA KKMKATNEPSLTHMDCSTEQPGSILGPECASCKRVFSPYFKKEPVYQLPCGHLLCRPCLGEKQRSLPMTCTACQRPVASQ DVLRVHF*

Gene Symbol:	UBOX5
Accession:	NM_001267584
Location:	EXON
Amino Acid Prediction:	R to L (nonsynonymous)
Amino Acid Position:	327

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVINLCLPQFRPRIHCNKISADGYEVENLISEDLTKRSHGFRTEYFIKPPVYVTVSFPFNVEICRINIDLTAGGGQNVTG LEMYTSASSSRVSWNTPQCRTLGPAEPSVPDKEAFTLVGKVLLKNQSQVVFSHRGFKARPPFGAMEATLPSPAVVAQELW NKGALSLSHVAHLRICITHVTGGGIPCIKRLEVWGQPAKTCSQEVIDSILLVTSENLPQDVALQAPALPMESDCDPGDQP ESQQAPSSLQKLAEIIQDVPEEFLDPITLEIMPCPMLLPSGKVIDQSTLEKCNRSEATWGRVPSDPFTGVAFTPHSQPLP HPSLKALIDHFLLQHSIPGCHLLGRAQTALAVIPSSIVLPSQKRKIEQAEHVPDSNFGVNASCFSATSPLVLPTTSEHTA KKMKATNEPSLTHMDCSTGPLSHEQKLSQSLEIALASTLGSMPSFTARLTRGQLQHLGTRGSNTSWRPGTGSAWEHPGPR MCLLQKSIFSLLQKGAGVPAALRPPPVPTLPG*

Gene Symbol:	UBOX5-AS1
Accession:	NR_038395
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004477035	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	UBOX5	CLINVAR
	UBOX5-AS1	CLINVAR
OMIM	619675	CLINVAR