RGD:405655199 Rat Genome Database

RGD:405655199 Rat Genome Database

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Variant: RGD:405655199 - Homo sapiens

RGD ID:

405655199

ClinVar ID:

CV3276892

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	3	45,636,637
GRCh38	3	45,595,145

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_014240.3:c.266G>A NC_000003.12:g.45595145G>A NC_000003.11:g.45636637G>A NM_014240.2:c.266G>A NP_055055.1:p.Arg89His More...	12/15/2023	missense variant	likely benign	AllHighlyPenetrant

Gene Symbol:	LIMD1
Accession:	XM_011534207
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	89

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDKYDDLGLEASKFIEDLNMYEASKDGLFRVDKGAGNNPEFEETRRVFATKMAKIHLQQQQQQLLQEETLPRGSRGPVNG GGRLGPQAHWEVVGSKLTVDGAAKPPLAASTGAPGAVTTLAAGQPPYPPQEQRSRPYLHGTRHGSQDCGSRESLATSEMS AFHQPGPCEDPSCLTHGDYYDNLSLASPKWGDKPGVSPSIGLSVGSGWPSSPGSDPPLPKPCGDHPLNHRQLSLSSSRSS EGSLGGQNSGIGGRSSEKPTGLWSTASSQRVSPGLPSPNLENGAPAVGPVQPRTPSVSAPLALSCPRQGGLPRSNSGLGG EVSGVMSKPNVDPQPWFQDGPKSYLSSSAPSSSPAGLDGSQQGAVPGLGPKPGCTDLGTGPKLSPTSLVHPVMSTLPELS CKEGPLGWSSDGSLGSVLLDSPSSPRVRLPCQPLVPGPELRPSAAELKLEALTQRLEREMDAHPKADYFDITEC*

Gene Symbol:	LIMD1
Accession:	NM_014240
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	89

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004415237	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	LIMD1	CLINVAR
OMIM	604543	CLINVAR