RGD:405655198 Rat Genome Database

RGD:405655198 Rat Genome Database

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Variant: RGD:405655198 - Homo sapiens

RGD ID:

405655198

ClinVar ID:

CV3276891

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	3	45,714,253
GRCh38	3	45,672,761

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000003.11:g.45714253T>G NM_014240.2:c.1713T>G NP_055055.1:p.Asp571Glu NM_014240.3:c.1713T>G NC_000003.12:g.45672761T>G More...	03/08/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	LIMD1
Accession:	NM_014240
Location:	EXON
Amino Acid Prediction:	D to E (nonsynonymous)
Amino Acid Position:	571

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

Gene Symbol:	LIMD1
Accession:	XM_011534207
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004415236	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	LIMD1	CLINVAR
OMIM	604543	CLINVAR