RGD:156396555 Rat Genome Database

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Variant: RGD:156396555 -  Homo sapiens

RGD ID: 156396555
ClinVar ID: CV2322444
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CR1L  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 207,850,854
GRCh38 1 207,677,509
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_175710.2:c.218C>G
NC_000001.11:g.207677509C>G
NC_000001.10:g.207850854C>G
NM_175710.1:c.218C>G
More... 		11/08/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CR1L
Accession:NM_175710
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPPVRLERPFPSRRFPGLLLAALVLLLSSFSDQCNVPEWLPFARPTNLTDDFEFPIGTYLNYECRPGYSGRRFSIICLK
NSVWTSAKDKCKRKSCRNPPDPVNGMAHVIKDIQFRSQIKYSCPKGYRLIGSSSATCIISGNTVIWDNKTPVCDRIICGL
PPTIANGDFTSISREYFHYGSVVTYHCNLGSRGKKVFELVGEPSIYCTSKDDQVGIWSGPAPQCIIPNKCTPPNVENGIL
VSDNRSLFSLNEVVEFRCQPGFGMKGPSHVKCQALNKWEPELPSCSRVCQPPPDVLHAERTQRDKDNFSPGQEVFYSCEP
GYDLRGSTYLHCTPQGDWSPAAPRCEVKSCDDFLGQLPNGHVLFPLNLQLGAKVDFVCDEGFQLKGSSASYCVLAGMESL
WNSSVPVCERKSCETPPVPVNGMVHVITDIHVGSRINYSCTTGHRLIGHSSAECILSGNTAHWSMKPPICQQIFCPNPPA
ILNGRHTGTPLGDIPYGKEVSYTCDPHPDRGMTFNLIGESTIRRTSEPHGNGVWSSPAPRCELPVGAGSHDALIVGKFYE
VFAEEFCHL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004180569 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CR1L CLINVAR
OMIM 605886 CLINVAR