RGD:156193879 Rat Genome Database

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Variant: RGD:156193879 -  Homo sapiens

RGD ID: 156193879
ClinVar ID: CV2297032
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BRF1  BTBD6  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 105,716,950
GRCh38 14 105,250,613
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033271.3:c.1399A>G
NM_001387567.1:c.1558A>G
NM_001242786.2:c.199+1894T>C
NM_001242787.2:c.199+1894T>C
More... 		08/02/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BTBD6
Accession:NM_001387567
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 520
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLPLACLHGRVAQCLTSLLLLAEPLPRPRRGARARGAASTGAEAAPAAPPAKMAAELYAPASAAAADLANSNAGAAVGR
KAGPRSPPSAPAPAPPPPAPAPPTLGNNHQESPGWRCCRPTLRERNALMFNNELMADVHFVVGPPGATRTVPAHKYVLAV
GSSVFYAMFYGDLAEVKSEIHIPDVEPAAFLILLKYMYSDEIDLEADTVLATLYAAKKYIVPALAKACVNFLETSLEAKN
ACVLLSQSRLFEEPELTQRCWEVIDAQAEMALRSEGFCEIDRQTLEIIVTREALNTKEAVVFEAVLNWAEAECKRQGLPI
TPRNKRHVLGRALYLVRIPTMTLEEFANGAAQSDILTLEETHSIFLWYTATNKPRLDFPLTKRKGLAPQRCHRFQSSAYR
SNQWRYRGRCDSIQFAVDRRVFIAGLGLYGSSSGKAEYSVKIELKRLGVVLAQNLTKFMSDGSSNTFPVWFEHPVQVEQD
TFYTASAVLDGSELSYFGQEGMTEVQCGKVAFQFQCSSDGTNGTGVQGGQIPELIFYA*

Gene Symbol:BTBD6
Accession:NM_033271
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 467
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAELYAPASAAAADLANSNAGAAVGRKAGPRSPPSAPAPAPPPPAPAPPTLGNNHQESPGWRCCRPTLRERNALMFNNE
LMADVHFVVGPPGATRTVPAHKYVLAVGSSVFYAMFYGDLAEVKSEIHIPDVEPAAFLILLKYMYSDEIDLEADTVLATL
YAAKKYIVPALAKACVNFLETSLEAKNACVLLSQSRLFEEPELTQRCWEVIDAQAEMALRSEGFCEIDRQTLEIIVTREA
LNTKEAVVFEAVLNWAEAECKRQGLPITPRNKRHVLGRALYLVRIPTMTLEEFANGAAQSDILTLEETHSIFLWYTATNK
PRLDFPLTKRKGLAPQRCHRFQSSAYRSNQWRYRGRCDSIQFAVDRRVFIAGLGLYGSSSGKAEYSVKIELKRLGVVLAQ
NLTKFMSDGSSNTFPVWFEHPVQVEQDTFYTASAVLDGSELSYFGQEGMTEVQCGKVAFQFQCSSDGTNGTGVQGGQIPE
LIFYA*

Gene Symbol:BRF1
Accession:NM_001519
Location:INTRON

Gene Symbol:BRF1
Accession:XM_011536672
Location:INTRON

Gene Symbol:BRF1
Accession:NM_145685
Location:INTRON

Gene Symbol:BRF1
Accession:XM_047431305
Location:INTRON

Gene Symbol:BRF1
Accession:NM_001242790
Location:INTRON

Gene Symbol:BRF1
Accession:XM_011536673
Location:INTRON

Gene Symbol:BRF1
Accession:XM_047431310
Location:INTRON

Gene Symbol:BRF1
Accession:XM_047431302
Location:INTRON

Gene Symbol:BRF1
Accession:XM_047431306
Location:INTRON

Gene Symbol:BRF1
Accession:XM_005267561
Location:INTRON

Gene Symbol:BRF1
Accession:XM_047431308
Location:INTRON

Gene Symbol:BRF1
Accession:XM_047431304
Location:INTRON

Gene Symbol:BRF1
Accession:XM_047431303
Location:INTRON

Gene Symbol:BRF1
Accession:XM_047431307
Location:INTRON

Gene Symbol:BRF1
Accession:NM_001242786
Location:INTRON

Gene Symbol:BRF1
Accession:NM_001242788
Location:INTRON

Gene Symbol:BRF1
Accession:NM_001242787
Location:INTRON

Gene Symbol:BRF1
Accession:NM_001242789
Location:INTRON

Gene Symbol:BRF1
Accession:XM_024449553
Location:INTRON

Gene Symbol:BRF1
Accession:XM_005267563
Location:INTRON

Gene Symbol:BRF1
Accession:XM_047431311
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002874406 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene BRF1 CLINVAR
  BTBD6 CLINVAR
OMIM 604902 CLINVAR