RGD:401866762 Rat Genome Database

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Variant: RGD:401866762 -  Homo sapiens

RGD ID: 401866762
ClinVar ID: CV2772736
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CR1L  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 207,868,061
GRCh38 1 207,694,716
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.207694716A>G
NC_000001.10:g.207868061A>G
NM_175710.1:c.827A>G
NP_783641.1:p.Asn276Ser
More... 		07/05/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CR1L
Accession:NM_175710
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPPVRLERPFPSRRFPGLLLAALVLLLSSFSDQCNVPEWLPFARPTNLTDDFEFPIGTYLNYECRPGYSGRPFSIICLK
NSVWTSAKDKCKRKSCRNPPDPVNGMAHVIKDIQFRSQIKYSCPKGYRLIGSSSATCIISGNTVIWDNKTPVCDRIICGL
PPTIANGDFTSISREYFHYGSVVTYHCNLGSRGKKVFELVGEPSIYCTSKDDQVGIWSGPAPQCIIPNKCTPPNVENGIL
VSDNRSLFSLNEVVEFRCQPGFGMKGPSHVKCQALSKWEPELPSCSRVCQPPPDVLHAERTQRDKDNFSPGQEVFYSCEP
GYDLRGSTYLHCTPQGDWSPAAPRCEVKSCDDFLGQLPNGHVLFPLNLQLGAKVDFVCDEGFQLKGSSASYCVLAGMESL
WNSSVPVCERKSCETPPVPVNGMVHVITDIHVGSRINYSCTTGHRLIGHSSAECILSGNTAHWSMKPPICQQIFCPNPPA
ILNGRHTGTPLGDIPYGKEVSYTCDPHPDRGMTFNLIGESTIRRTSEPHGNGVWSSPAPRCELPVGAGSHDALIVGKFYE
VFAEEFCHL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004357543 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CR1L CLINVAR
OMIM 605886 CLINVAR