RGD:156279930 Rat Genome Database

RGD:156279930 Rat Genome Database

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Variant: RGD:156279930 - Homo sapiens

RGD ID:

156279930

ClinVar ID:

CV2285132

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

UBOX5 UBOX5-AS1

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	20	3,090,766
GRCh38	20	3,110,120

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_055763.1:p.Arg538Trp NM_001267584.2:c.*68C>T NM_199415.3:c.1450C>T NM_014948.4:c.1612C>T More...	06/24/2022	3 prime utr variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	UBOX5
Accession:	NM_001267584
Location:	3UTRS;EXON

Gene Symbol:	UBOX5
Accession:	NM_014948
Location:	EXON
Amino Acid Prediction:	R to R (synonymous)
Amino Acid Position:	538

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

Gene Symbol:	UBOX5
Accession:	NM_199415
Location:	EXON
Amino Acid Prediction:	R to R (synonymous)
Amino Acid Position:	484

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

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004145354	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	UBOX5	CLINVAR
	UBOX5-AS1	CLINVAR
OMIM	619675	CLINVAR