RGD:401764177 Rat Genome Database

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Variant: RGD:401764177 -  Homo sapiens

RGD ID: 401764177
ClinVar ID: CV2700521
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRELD2  LOC127897006  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 50,316,884
GRCh38 22 49,923,236
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001284317.2:c.688+529G>A
NM_001284318.2:c.691G>A
NM_024324.5:c.691G>A
NM_001135101.3:c.838G>A
More... 		04/13/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CRELD2
Accession:NM_001135101
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLPRRAALGLLPLLLLLPPAPEAAKKPTPCHRCRGLVDKFNQGMVDTAKKNFGGGNTAWEEKTLSKYESSEIRLLEILE
GLCESSDFECNQMLEAQEEHLEAWWLQLKSEYPDLFEWFCVKTLKVCCSPGTYGPDCLACQGGSQRPCSGNGHCSGDGSR
QGDGSCRCHMGYQGPLCTDCMDGYFSSLRNETHSICTVRTGLSDSYPPCCLSLGCWRGVGHAWIRGRNTHTQPGYSSRVW
IAAFSPACDESCKTCSGLTNRDCGECEVGWVLDEGACVDMDECAAEPPPCSAAQFCKNANGSYTCEECDSSCVGCTGEGP
GNCKECISGYAREHGQCADVDECSLAEKTCVRKNENCYNTPGSYVCVCPDGFEETEDACVPPAEAEATEGESPTQLPSRE
DL*

Gene Symbol:CRELD2
Accession:NM_024324
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLPRRAALGLLPLLLLLPPAPEAAKKPTPCHRCRGLVDKFNQGMVDTAKKNFGGGNTAWEEKTLSKYESSEIRLLEILE
GLCESSDFECNQMLEAQEEHLEAWWLQLKSEYPDLFEWFCVKTLKVCCSPGTYGPDCLACQGGSQRPCSGNGHCSGDGSR
QGDGSCRCHMGYQGPLCTDCMDGYFSSLRNETHSICTACDESCKTCSGLTNRDCGECEVGWVLDEGACVDMDECAAEPPP
CSAAQFCKNANGSYTCEECDSSCVGCTGEGPGNCKECISGYAREHGQCADVDECSLAEKTCVRKNENCYNTPGSYVCVCP
DGFEETEDACVPPAEAEATEGESPTQLPSREDL*

Gene Symbol:CRELD2
Accession:XM_005261737
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 281
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLPRRAALGLLPLLLLLPPAPEAAKKPTPCHRCRGLVDKFNQGMVDTAKKNFGGGNTAWEEKTLSKYESSEIRLLEILE
GLCESSDFECNQMLEAQEEHLEAWWLQLKSEYPDLFEWFCVKTLKVCCSPGTYGPDCLACQGGSQRPCSGNGHCSGDGSR
QGDGSCRCHMGYQGPLCTDCMDGYFSSLRNETHSICTAVRTGLSDSYPPCCLSLGCWRGVGHAWIRGRNTHTQPGYSSRV
WIAAFSPACDESCKTCSGLTNRDCGECEVGWVLDEGACVDMDECAAEPPPCSAAQFCKNANGSYTCEECDSSCVGCTGEG
PGNCKECISGYAREHGQCADVDECSLAEKTCVRKNENCYNTPGSYVCVCPDGFEETEDACVPPAEAEATEGESPTQLPSR
EDL*

Gene Symbol:CRELD2
Accession:XM_005261738
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLPRRAALGLLPLLLLLPPAPEAAKKPTPCHRCRGLVDKFNQGMVDTAKKNFGGGNTAWEEKTLSKYESSEIRLLEILE
GLCESSDFECNQMLEAQEEHLEAWWLQLKSEYPDLFEWFCVKTLKVCCSPGTYGPDCLACQGGSQRPCSGNGHCSGDGSR
QGDGSCRCHMGYQGPLCTDCMDGYFSSLRNETHSICTACDESCKTCSGLTNRDCGECEVGWVLDEGACVDMDECAAEPPP
CSAAQFCKNANGSYTCEECDSSCVGCTGEGPGNCKECISGYAREHGQCADVDECSLAEKTCVRKNENCYNTPGSYVCVCP
DGFEETEDACVPPAEAGEWHGCPPHRLPSPGPQGLHVDWLLGLKSTQMVALRW*

Gene Symbol:CRELD2
Accession:NM_001284318
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLPRRAALGLLPLLLLLPPAPEAAKKPTPCHRCRGLVDKFNQGMVDTAKKNFGGGNTAWEEKTLSKYESSEIRLLEILE
GLCESSDFECNQMLEAQEEHLEAWWLQLKSEYPDLFEWFCVKTLKVCCSPGTYGPDCLACQGGSQRPCSGNGHCSGDGSR
QGDGSCRCHMGYQGPLCTDCMDGYFSSLRNETHSICTACDESCKTCSGLTNRDCGECEVGWVLDEGACVDMDECAAEPPP
CSAAQFCKNANGSYTCEDVDECSLAEKTCVRKNENCYNTPGSYVCVCPDGFEETEDACVPPAEAEATEGESPTQLPSRED
L*

Gene Symbol:CRELD2
Accession:NR_104295
Location:EXON;NON-CODING

Gene Symbol:CRELD2
Accession:NM_001284317
Location:INTRON

Gene Symbol:CRELD2
Accession:XM_011530372
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004312937 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CRELD2 CLINVAR
OMIM 607171 CLINVAR