RGD:13446371 Rat Genome Database

Variant: RGD:13446371 - Homo sapiens

RGD ID:

13446371

RS ID:

rs146803767

ClinVar ID:

CV437833

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CD46

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	207,963,618
GRCh38	1	207,790,273

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_002389.4:c.1148C>T LRG_155:g.43217C>T NG_009296.1:g.43217C>T NC_000001.11:g.207790273C>T More...	05/04/2022	intron variant	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	AHUS, SUSCEPTIBILITY TO, 2; AllHighlyPenetrant; Atypical hemolytic-uremic syndrome 2; HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; none provided

Disease Annotations Click to see Annotation Detail View

atypical hemolytic-uremic syndrome (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CD46
Accession:	NM_172357
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	339

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVV PYRYLQRRKKKGTYLTDEIHREVKFTSL*

Gene Symbol:	CD46
Accession:	XM_047420894
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	368

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPE EGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDEIHREVKFTSL*

Gene Symbol:	CD46
Accession:	NM_172351
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	368

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPE EGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDEIHREVKFTSL*

Gene Symbol:	CD46
Accession:	NM_172352
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	353

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVI VIAIVVGVAVICVVPYRYLQRRKKKGTYLTDEIHREVKFTSL*

Gene Symbol:	CD46
Accession:	XM_047420901
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	354

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVSTSSTTKSPASSASGYPKPEEGILDSLDVWVIAV IVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDEIHREVKFTSL*

Gene Symbol:	CD46
Accession:	NM_002389
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	383

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPT YKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDEIHREVKFTSL*

Gene Symbol:	CD46
Accession:	XM_047420909
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	353

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVI VIAIVVGVAVICVVPYRYLQRRKKKGTYLTDEIHREVKFTSL*

Gene Symbol:	CD46
Accession:	XM_047420888
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	383

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPT YKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDEIHREVKFTSL*

Gene Symbol:	CD46
Accession:	NM_172355
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	354

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPSWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVSTSSTTKSPASSASGYPKPEEGILDSLDVWVIAV IVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDEIHREVKFTSL*

Gene Symbol:	CD46
Accession:	NM_172350
Location:	INTRON

Gene Symbol:	CD46
Accession:	NM_172359
Location:	INTRON

Gene Symbol:	CD46
Accession:	NM_172361
Location:	INTRON

Gene Symbol:	CD46
Accession:	NM_172356
Location:	INTRON

Gene Symbol:	CD46
Accession:	XM_011509563
Location:	INTRON

Gene Symbol:	CD46
Accession:	NM_153826
Location:	INTRON

Gene Symbol:	CD46
Accession:	NM_172353
Location:	INTRON

Gene Symbol:	CD46
Accession:	NM_172358
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:21706448	PMID:23508668	PMID:25741868	PMID:28492532	PMID:30046676	PMID:30377230	PMID:34169201

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000513625	CLINVAR
	RCV001098126	CLINVAR
	RCV002248746	CLINVAR
	RCV003419883	CLINVAR
dbSNP (RS)	rs146803767	CLINVAR
MedGen	C2752040	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	CD46	CLINVAR
OMIM	120920	CLINVAR
	612922	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:13446371 - Homo sapiens

Imported Disease Annotations - ClinVar