RGD:329365449 Rat Genome Database

RGD:329365449 Rat Genome Database

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Variant: RGD:329365449 - Homo sapiens

RGD ID:

329365449

ClinVar ID:

CV2444881

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

UBOX5 UBOX5-AS1

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	20	3,090,900
GRCh38	20	3,110,254

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_199415.3:c.1316A>G NM_001267584.2:c.1473A>G NM_014948.4:c.1478A>G NC_000020.11:g.3110254T>C More...	01/23/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	UBOX5
Accession:	NM_014948
Location:	EXON
Amino Acid Prediction:	Y to S (nonsynonymous)
Amino Acid Position:	493

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

Gene Symbol:	UBOX5
Accession:	NM_199415
Location:	EXON
Amino Acid Prediction:	Y to S (nonsynonymous)
Amino Acid Position:	439

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

Gene Symbol:	UBOX5
Accession:	NM_001267584
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	491

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

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004259117	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	UBOX5	CLINVAR
	UBOX5-AS1	CLINVAR
OMIM	619675	CLINVAR