RGD:401870308 Rat Genome Database

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Variant: RGD:401870308 -  Homo sapiens

RGD ID: 401870308
ClinVar ID: CV2765827
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM83A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 124,219,473
GRCh38 8 123,207,233
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001288587.3:c.682G>C
NM_001394396.1:c.850G>C
NM_032899.6:c.850G>C
NM_207006.3:c.850G>C
More... 		06/27/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FAM83A
Accession:NM_207006
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSRHLGKIRKRLEDVKSQWVRPARADFSDNESARLATDALLDGGSEAYWRVLSQEGEVDFLSSVEAQYIQAQAREPPC
PPDTLGGAEAGPKGLDSSSLQSGTYFPVASEGSEPALLHSWASAEKPYLKEKSSATVYFQTVKHNNIRDLVRRCITRTSQ
VLVILMDVFTDVEIFCDILEAANKRGVFVCVLLDQGGVKLFQEMCDKVQISDSHLKNISIRSVEGEIYCAKSGRKFAGQI
REKFIISDWRFVLSGSYSFTWLCGHVHRNILSKFTGQAVELFDQEFRHLYASSKPVMGLKSPRLVAPVPPGAAPANGRLS
SSSGSASDRTSSNPFSGRSAGSHPVPESKQNKTKTKKQTTLWFLMAF*

Gene Symbol:FAM83A
Accession:NM_032899
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSRHLGKIRKRLEDVKSQWVRPARADFSDNESARLATDALLDGGSEAYWRVLSQEGEVDFLSSVEAQYIQAQAREPPC
PPDTLGGAEAGPKGLDSSSLQSGTYFPVASEGSEPALLHSWASAEKPYLKEKSSATVYFQTVKHNNIRDLVRRCITRTSQ
VLVILMDVFTDVEIFCDILEAANKRGVFVCVLLDQGGVKLFQEMCDKVQISDSHLKNISIRSVEGEIYCAKSGRKFAGQI
REKFIISDWRFVLSGSYSFTWLCGHVHRNILSKFTGQAVELFDQEFRHLYASSKPVMGLKSPRLVAPVPPGAAPANGRLS
SSSGSASDRTSSNPFSGRSAGSHPGTRSVSASSGPCSPAAPHPPPPPRFQPHQGPWGAPSPQAHLSPRPHDGPPAAVYSN
LGAYRPTRLQLEQLGLVPRLTPTWRPFLQASPHF*

Gene Symbol:FAM83A
Accession:XM_005251087
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSRHLGKIRKRLEDVKSQWVRPARADFSDNESARLATDALLDGGSEAYWRVLSQEGEVDFLSSVEAQYIQAQAREPPC
PPDTLGGAEAGPKGLDSSSLQSGTYFPVASEGSEPALLHSWASAEKPYLKEKSSATVYFQTVKHNNIRDLVRRCITRTSQ
NISIRSVEGEIYCAKSGRKFAGQIREKFIISDWRFVLSGSYSFTWLCGHVHRNILSKFTGQAVELFDQEFRHLYASSKPV
MGLKSPRLVAPVPPGAAPANGRLSSSSGSASDRTSSNPFSGRSAGSHPGTRSVSASSGPCSPAAPHPPPPPRFQPHQGPW
GAPSPQAHLSPRPHDGPPAAVYSNLGAYRPTRLQLEQLGLVPRLTPTWRPFLQASPHF*

Gene Symbol:FAM83A
Accession:NM_001288587
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSRHLGKIRKRLEDVKSQWVRPARADFSDNESARLATDALLDGGSEAYWRVLSQEGEVDFLSSVEAQYIQAQAREPPC
PPDTLGGAEAGPKGLDSSSLQSGTYFPVASEGSEPALLHSWASAEKPYLKEKSSATVYFQTVKHNNIRDLVRRCITRTSQ
NISIRSVEGEIYCAKSGRKFAGQIREKFIISDWRFVLSGSYSFTWLCGHVHRNILSKFTGQAVELFDQEFRHLYASSKPV
MGLKSPRLVAPVPPGAAPANGRLSSSSGSASDRTSSNPFSGRSAGSHPGTRTDG*

Gene Symbol:FAM83A
Accession:NM_001394396
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 284
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSRHLGKIRKRLEDVKSQWVRPARADFSDNESARLATDALLDGGSEAYWRVLSQEGEVDFLSSVEAQYIQAQAREPPC
PPDTLGGAEAGPKGLDSSSLQSGTYFPVASEGSEPALLHSWASAEKPYLKEKSSATVYFQTVKHNNIRDLVRRCITRTSQ
VLVILMDVFTDVEIFCDILEAANKRGVFVCVLLDQGGVKLFQEMCDKVQISDSHLKNISIRSVEGEIYCAKSGRKFAGQI
REKFIISDWRFVLSGSYSFTWLCGHVHRNILSKFTGQAVELFDQEFRHLYASSKPVMGLKSPRLVAPVPPGAAPANGRLS
SSSGSASDRTSSNPFSGRSAGSHPGTRSVSASSGPCSPAAPHPPPPPRFQPHQGPWGAPSPQAHLSPRPHDGPPAAVYSN
LGAYRPTRLQLEQLGLVPRLTPTWRPFLQASPHF*

Gene Symbol:FAM83A
Accession:XM_011517338
Location:INTRON

Gene Symbol:FAM83A
Accession:NM_001321630
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004335820 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FAM83A CLINVAR