RGD:329357541 Rat Genome Database

RGD:329357541 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: RGD:329357541 - Homo sapiens

RGD ID:

329357541

ClinVar ID:

CV2453646

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	3	45,714,273
GRCh38	3	45,672,781

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_014240.3:c.1733A>T NC_000003.12:g.45672781A>T NC_000003.11:g.45714273A>T NM_014240.2:c.1733A>T NP_055055.1:p.Asp578Val More...	01/23/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	LIMD1
Accession:	NM_014240
Location:	EXON
Amino Acid Prediction:	D to V (nonsynonymous)
Amino Acid Position:	578

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDKYDDLGLEASKFIEDLNMYEASKDGLFRVDKGAGNNPEFEETRRVFATKMAKIHLQQQQQQLLQEETLPRGSRGPVNG GGRLGPQARWEVVGSKLTVDGAAKPPLAASTGAPGAVTTLAAGQPPYPPQEQRSRPYLHGTRHGSQDCGSRESLATSEMS AFHQPGPCEDPSCLTHGDYYDNLSLASPKWGDKPGVSPSIGLSVGSGWPSSPGSDPPLPKPCGDHPLNHRQLSLSSSRSS EGSLGGQNSGIGGRSSEKPTGLWSTASSQRVSPGLPSPNLENGAPAVGPVQPRTPSVSAPLALSCPRQGGLPRSNSGLGG EVSGVMSKPNVDPQPWFQDGPKSYLSSSAPSSSPAGLDGSQQGAVPGLGPKPGCTDLGTGPKLSPTSLVHPVMSTLPELS CKEGPLGWSSDGSLGSVLLDSPSSPRVRLPCQPLVPGPELRPSAAELKLEALTQRLEREMDAHPKADYFGACVKCSKGVF GAGQACQAMGNLYHDTCFTCAACSRKLRGKAFYFVNGKVFCEEDFLYSGFQQSADRCFLCGHLIMDMILQALGKSYHPGC FRCVICNECLDGVPFTVVSENKIYCVRDYHKVLAPKCAACGLPILPPEGSDETIRVVSMDRDYHVECYHCEDCGLELNDE DGHRCYPLEDHLFCHSCHVKRLEKRPSSTALHQHHF*

Gene Symbol:	LIMD1
Accession:	XM_011534207
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004269305	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	LIMD1	CLINVAR
OMIM	604543	CLINVAR