RGD:155667977 Rat Genome Database

RGD:155667977 Rat Genome Database

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Variant: RGD:155667977 - Homo sapiens

RGD ID:

155667977

ClinVar ID:

CV1856077

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

BUB1B BUB1B-PAK6 LOC107984763

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	15	40,512,817
GRCh38	15	40,220,616

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001128629.3:c.-118+2949A>C NM_001128628.3:c.-201+2949A>C NM_001211.6:c.3010A>C LRG_489:g.64608A>C More...	02/15/2022	intron variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1856077	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	BUB1B-PAK6
Accession:	NM_001128629
Location:	5UTRS;INTRON

Gene Symbol:	BUB1B-PAK6
Accession:	NM_001128628
Location:	5UTRS;INTRON

Gene Symbol:	BUB1B
Accession:	NM_001211
Location:	EXON
Amino Acid Prediction:	N to H (nonsynonymous)
Amino Acid Position:	1004

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQESACNNTLQQQKRAFEYEIRFYTGNDPLDVWDR YISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPRFLNLWLKLGRLCNEPLDMYSYLHNQGIGVSLAQFYISWAE EYEARENFRKADAIFQEGIQQKAEPLERLQSQHRQFQARVSRQTLLALEKEEEEEVFESSVPQRSTLAELKSKGKKTARA PIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENADEASTAELSKPTVQPWIAPPMPRAKENELQAGPWNTGRSLE HRPRGNTASLIAVPAVLPSFTPYVEETARQPVMTPCKIEPSINHILSTRKPGKEEGDPLQRVQSHQQASEEKKEKMMYCK EKIYAGVGEFSFEEIRAEVFRKKLKEQREAELLTSAEKRAEMQKQIEEMEKKLKEIQTTQQERTGDQQEETMPTKETTKL QIASESQKIPGMTLSSSVCQVNCCARETSLAENIWQEQPHSKGPSVPFSIFDEFLLSEKKNKSPPADPPRVLAQRRPLAV LKTSESITSNEDVSPDVCDEFTGIEPLSEDAIITGFRNVTICPNPEDTCDFARAARFVSTPFHEIMSLKDLPSDPERLLP EEDLDVKTSEDQQTACGTIYSQTLSIKKLSPIIEDSREATHSSGFSGSSASVASTSSIKCLQIPEKLELTNETSENPTQS PWCSQYRRQLLKSLPELSASAELCIEDRPMPKLEIEKEIELGNEDYCIKREYLICEDYKLFWVAPRNSAELTVIKVSSQP VPWDFYINLKLKERLNEDFDHFCSCYQYQDGCIVWHQYINCFTLQDLLQHSEYITHEITVLIIYNLLTIVEMLHKAEIVH GDLSPRCLILRNRIHDPYDCNKNNQALKIVDFSYSVDLRVQLDVFTLSGFRTVQILEGQKILANCSSPYQVDLFGIADLA HLLLFKEHLQVFWDGSFWKLSQNISELKDGELWNKFFVRILNAHDEATVSVLGELAAEMNGVFDTTFQSHLNKALWKVGK LTSPGALLFQ*

Gene Symbol:	LOC107984763
Accession:	XR_001751506
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV002435779	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	BUB1B	CLINVAR
	BUB1B-PAK6	CLINVAR
OMIM	602860	CLINVAR