RGD:155977772 Rat Genome Database

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Variant: RGD:155977772 -  Homo sapiens

RGD ID: 155977772
ClinVar ID: CV2338835
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BORCS7  BORCS7-ASMT  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 104,622,652
GRCh38 10 102,862,895
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001136200.2:c.292C>G
NM_144591.5:c.292C>G
NC_000010.11:g.102862895C>G
NC_000010.10:g.104622652C>G
More... 		12/16/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:BORCS7
Accession:NM_144591
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMATGTPESQARFGQSVKGLLTEKVTTCGTDVIALTKQVLKGSRSSELLGQAARNMVLQEDAILHSEDSLRKMAIITTHL
QYQQEAIQKNVEQSSDLEDQLNHLLK*

Gene Symbol:BORCS7
Accession:NM_001136200
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMATGTPESQARFGQSVKGLLTEKVTTCGTDVIALTKQVLKGSRSSELLGQAARNMVLQEDAILHSEDSLRKMAIITTHL
QYQQEAIQKNVEQSSDLEDQLNHLLK*

Gene Symbol:BORCS7-ASMT
Accession:NR_037644
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004182390 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BORCS7 CLINVAR
  BORCS7-ASMT CLINVAR
OMIM 616600 CLINVAR