RGD:401870894 Rat Genome Database

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Variant: RGD:401870894 -  Homo sapiens

RGD ID: 401870894
ClinVar ID: CV2788937
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CR1L  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 207,870,938
GRCh38 1 207,697,593
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.10:g.207870938G>A
NM_175710.1:c.953G>A
NP_783641.1:p.Cys318Tyr
NM_175710.2:c.953G>A
More... 		08/19/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CR1L
Accession:NM_175710
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPPVRLERPFPSRRFPGLLLAALVLLLSSFSDQCNVPEWLPFARPTNLTDDFEFPIGTYLNYECRPGYSGRPFSIICLK
NSVWTSAKDKCKRKSCRNPPDPVNGMAHVIKDIQFRSQIKYSCPKGYRLIGSSSATCIISGNTVIWDNKTPVCDRIICGL
PPTIANGDFTSISREYFHYGSVVTYHCNLGSRGKKVFELVGEPSIYCTSKDDQVGIWSGPAPQCIIPNKCTPPNVENGIL
VSDNRSLFSLNEVVEFRCQPGFGMKGPSHVKCQALNKWEPELPSCSRVCQPPPDVLHAERTQRDKDNFSPGQEVFYSYEP
GYDLRGSTYLHCTPQGDWSPAAPRCEVKSCDDFLGQLPNGHVLFPLNLQLGAKVDFVCDEGFQLKGSSASYCVLAGMESL
WNSSVPVCERKSCETPPVPVNGMVHVITDIHVGSRINYSCTTGHRLIGHSSAECILSGNTAHWSMKPPICQQIFCPNPPA
ILNGRHTGTPLGDIPYGKEVSYTCDPHPDRGMTFNLIGESTIRRTSEPHGNGVWSSPAPRCELPVGAGSHDALIVGKFYE
VFAEEFCHL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004363259 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CR1L CLINVAR
OMIM 605886 CLINVAR