RGD:329383275 Rat Genome Database

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Variant: RGD:329383275 -  Homo sapiens

RGD ID: 329383275
ClinVar ID: CV2434488
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 60,892,516
GRCh38 11 61,125,044
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001346456.2:c.1121G>A
NM_014207.4:c.1292G>A
NC_000011.10:g.61125044G>A
NC_000011.9:g.60892516G>A
More... 		02/06/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CD5
Accession:NM_014207
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 431
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPMGSLQPLATLYLLGMLVASCLGRLSWYDPDFQARLTRSNSKCQGQLEVYLKDGWHMVCSQSWGRSSKQWEDPSQASKV
CQRLNCGVPLSLGPFLVTYTPQSSIICYGQLGSFSNCSHSRNDMCHSLGLTCLEPQKTTPPTTRPPPTTTPEPTAPPRLQ
LVAQSGGQHCAGVVEFYSGSLGGTISYEAQDKTQDLENFLCNNLQCGSFLKHLPETEAGRAQDPGEPREHQPLPIQWKIQ
NSSCTSLEHCFRKIKPQKSGRVLALLCSGFQPKVQSRLVGGSSICEGTVEVRQGAQWAALCDSSSARSSLRWEEVCREQQ
CGSVNSYRVLDAGDPTSRGLFCPHQKLSQCHELWERNSYCKKVFVTCQDPNPAGLAAGTVASIILALVLLVVLLVVCGPL
AYKKLVKKFRQKKQRQWIGPTGMNQNMSFHHNHTATVRSHAENPTASHVDNEYSQPPRNSHLSAYPALEGALHRSSMQPD
NSSDSDYDLHGAQRL*

Gene Symbol:CD5
Accession:NM_001346456
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 374
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCSQSWGRSSKQWEDPSQASKVCQRLNCGVPLSLGPFLVTYTPQSSIICYGQLGSFSNCSHSRNDMCHSLGLTCLEPQK
TTPPTTRPPPTTTPEPTAPPRLQLVAQSGGQHCAGVVEFYSGSLGGTISYEAQDKTQDLENFLCNNLQCGSFLKHLPETE
AGRAQDPGEPREHQPLPIQWKIQNSSCTSLEHCFRKIKPQKSGRVLALLCSGFQPKVQSRLVGGSSICEGTVEVRQGAQW
AALCDSSSARSSLRWEEVCREQQCGSVNSYRVLDAGDPTSRGLFCPHQKLSQCHELWERNSYCKKVFVTCQDPNPAGLAA
GTVASIILALVLLVVLLVVCGPLAYKKLVKKFRQKKQRQWIGPTGMNQNMSFHHNHTATVRSHAENPTASHVDNEYSQPP
RNSHLSAYPALEGALHRSSMQPDNSSDSDYDLHGAQRL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004254196 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CD5 CLINVAR
OMIM 153340 CLINVAR