RGD:401739563 Rat Genome Database

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Variant: RGD:401739563 -  Homo sapiens

RGD ID: 401739563
ClinVar ID: CV2684106
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127271205  TMEM183A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 202,976,696
GRCh38 1 203,007,568
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001322955.2:c.103G>T
NM_001322956.2:c.103G>T
NM_138391.6:c.103G>T
NG_093057.1:g.168G>T
More... 		05/08/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMEM183A
Accession:NM_001322957
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPGPLGRPRPDTVAMPKRGKRLKFRAHDACSCRVTVADYANSDPAVVRSGRVKKAVANAVQQEVKSLCGLEASQVPA
EEALSGAGEPCDIIDSSDEMDAQEESIHERTVSRKKKSKRHKEELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNA
WTVTCTAAFWTRLYRRHYTLDASLPLRLRPESMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLF
WCRKIVGNRQEPMWEFNFKFKKQVKEQVYRRIAASRSVRRCSYQSRPGLLPTAGHHPQFHLYSDCHGNDIYSVYYQCEHG
HAASSSETGVPRFPCPWWSETAQ*

Gene Symbol:TMEM183A
Accession:NM_001322959
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPGPLGRPRPDTVAMPKRGKRLKFRAHDACSCRVKSLCGLEASQVPAEEALSGAGEPCDIIDSSDEMDAQEESIHER
TVSRKKKSKRHKELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNAWTVTCTAAFWTRLYRRHYTLDASLPLRLRPE
SMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLFWCRKIVGNRQEPMWEFNFKFKKQSPRLKSKC
TGGLQPPVQYEDVHTNPDQDCCLLQVTTLNFIFIPIVMGMIFTLFTINVSTDMRHHRVRLVFQDSPVHGGRKLRSEQGVQ
VILDPVHSVRLFDWWHPQYPFSLRA*

Gene Symbol:TMEM183A
Accession:NM_001322956
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPGPLGRPRPDTVAMPKRGKRLKFRAHDACSCRVTVADYANSDPAVVRSGRVKKAVANAVQQEVKSLCGLEASQVPA
EEALSGAGEPCDIIDSSDEMDAQEESIHERTVSRKKKSKRHKELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNAW
TVTCTAAFWTRLYRRHYTLDASLPLRLRPESMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLFW
CRKIVGNRQEPMWEFNFKFKKQSPRLKSKCTGGLQPPVQYEDVHTNPDQDCCLLQVTTLNFIFIPIVMGMIFTLFTINVS
TDMRHHRVRLVFQDSPVHGGRKLRSEQGVQVILDPVHSVRLFDWWHPQYPFSLRA*

Gene Symbol:TMEM183A
Accession:NM_001322955
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPGPLGRPRPDTVAMPKRGKRLKFRAHDACSCRVTVADYANSDPAVVRSGRVKKAVANAVQQEVKSLCGLEASQVPA
EEALSGAGEPCDIIDSSDEMDAQEESIHERTVSRKKKSKRHKELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNAW
TVTCTAAFWTRLYRRHYTLDASLPLRLRPESMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLFW
CRKIVGNRQEPMWEFNFKFKKQVKEQVYRRIAASRSVRRCSYQSRPGLLPTAGHHPQFHLYSDCHGNDIYSVYYQCEHGH
AASSSETGVPRFPCPWWSETAQ*

Gene Symbol:TMEM183A
Accession:NM_138391
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPGPLGRPRPDTVAMPKRGKRLKFRAHDACSCRVTVADYANSDPAVVRSGRVKKAVANAVQQEVKSLCGLEASQVPA
EEALSGAGEPCDIIDSSDEMDAQEESIHERTVSRKKKSKRHKEELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNA
WTVTCTAAFWTRLYRRHYTLDASLPLRLRPESMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLF
WCRKIVGNRQEPMWEFNFKFKKQSPRLKSKCTGGLQPPVQYEDVHTNPDQDCCLLQVTTLNFIFIPIVMGMIFTLFTINV
STDMRHHRVRLVFQDSPVHGGRKLRSEQGVQVILDPVHSVRLFDWWHPQYPFSLRA*

Gene Symbol:TMEM183A
Accession:NM_001322958
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPGPLGRPRPDTVAMPKRGKRLKFRAHDACSCRVKSLCGLEASQVPAEEALSGAGEPCDIIDSSDEMDAQEESIHER
TVSRKKKSKRHKEELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNAWTVTCTAAFWTRLYRRHYTLDASLPLRLRP
ESMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLFWCRKIVGNRQEPMWEFNFKFKKQSPRLKSK
CTGGLQPPVQYEDVHTNPDQDCCLLQVTTLNFIFIPIVMGMIFTLFTINVSTDMRHHRVRLVFQDSPVHGGRKLRSEQGV
QVILDPVHSVRLFDWWHPQYPFSLRA*

Gene Symbol:TMEM183A
Accession:NR_146288
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_136531
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_136530
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_136533
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_146285
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_146286
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_136532
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_136534
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_146287
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NM_001349859
Location:INTRON

Gene Symbol:TMEM183A
Accession:NM_001349862
Location:INTRON

Gene Symbol:TMEM183A
Accession:NR_146289
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004295696 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMEM183A CLINVAR