RGD:28890432 Rat Genome Database

Variant: RGD:28890432 - Homo sapiens

RGD ID:

28890432

RS ID:

rs138843816

ClinVar ID:

CV863370

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CD46

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	207,925,595
GRCh38	1	207,752,250

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_172355.3:c.38C>T NM_172357.3:c.38C>T NM_172358.3:c.38C>T NM_172359.3:c.38C>T More...	11/24/2020	missense variant	benign	AHUS, SUSCEPTIBILITY TO, 2; AllHighlyPenetrant; Atypical hemolytic-uremic syndrome 2; Atypical HUS; 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:	XM_011509563
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGYPKP EEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGKADGGAEYATYQTKSTTPAEQRG*

Gene Symbol:	CD46
Accession:	NM_172352
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVI VIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL*

Gene Symbol:	CD46
Accession:	NM_172361
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVV PYRYLQRRKKKGKADGGAEYATYQTKSTTPAEQRG*

Gene Symbol:	CD46
Accession:	XM_047420909
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVI VIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL*

Gene Symbol:	CD46
Accession:	NM_172351
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPE EGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL*

Gene Symbol:	CD46
Accession:	NM_172353
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVI VIAIVVGVAVICVVPYRYLQRRKKKGKADGGAEYATYQTKSTTPAEQRG*

Gene Symbol:	CD46
Accession:	NM_172355
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVSTSSTTKSPASSASGYPKPEEGILDSLDVWVIAV IVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL*

Gene Symbol:	CD46
Accession:	NM_172357
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVV PYRYLQRRKKKGTYLTDETHREVKFTSL*

Gene Symbol:	CD46
Accession:	XM_047420901
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVSTSSTTKSPASSASGYPKPEEGILDSLDVWVIAV IVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL*

Gene Symbol:	CD46
Accession:	NM_002389
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPT YKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL*

Gene Symbol:	CD46
Accession:	NM_153826
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPE EGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGKADGGAEYATYQTKSTTPAEQRG*

Gene Symbol:	CD46
Accession:	XM_047420888
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPT YKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL*

Gene Symbol:	CD46
Accession:	NM_172356
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVSTSSTTKSPASSASGYPKPEEGILDSLDVWVIAV IVIAIVVGVAVICVVPYRYLQRRKKKGKADGGAEYATYQTKSTTPAEQRG*

Gene Symbol:	CD46
Accession:	NM_172350
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKGPRPTYKPPVSNYPGYPKPEEGILDSLDVWVIAVI VIAIGKQMVELNMPLTRLNQPLQQSREAE*

Gene Symbol:	CD46
Accession:	NM_172358
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPE EGILDSLDVWVIAVIVIAIDIFKGGRRKGKQMVELNMPLTRLNQPLQQSREAE*

Gene Symbol:	CD46
Accession:	XM_047420894
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVSTSSTTKSPASSASGPRPTYKPPVSNYPGYPKPE EGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGTYLTDETHREVKFTSL*

Gene Symbol:	CD46
Accession:	NM_172359
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEPPGRRECPFPFWRFPGLLLAAMVLLLYSFSDACEEPPTFEAMELIGKPKPYYEIGERVDYKCKKGYFYIPPLATHTIC DRNHTWLPVSDDACYRETCPYIRDPLNGQAVPANGTYEFGYQMHFICNEGYYLIGEEILYCELKGSVAIWSGKPPICEKV LCTPPPKIKNGKHTFSEVEVFEYLDAVTYSCDPAPGPDPFSLIGESTIYCGDNSVWSRAAPECKVVKCRFPVVENGKQIS GFGKKFYYKATVMFECDKGFYLDGSDTIVCDSNSTWDPPVPKCLKVLPPSSTKPPALSHSVSTSSTTKSPASSASGPRPT YKPPVSNYPGYPKPEEGILDSLDVWVIAVIVIAIVVGVAVICVVPYRYLQRRKKKGKADGGAEYATYQTKSTTPAEQRG*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001099807	CLINVAR
	RCV001519414	CLINVAR
	RCV002294441	CLINVAR
	RCV003151283	CLINVAR
	RCV003906191	CLINVAR
dbSNP (RS)	rs138843816	CLINVAR
MedGen	C2752040	CLINVAR
	C2931788	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	CD46	CLINVAR
	LOC129932405	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:28890432 - Homo sapiens

Imported Disease Annotations - ClinVar