RGD:401779382 Rat Genome Database

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Variant: RGD:401779382 -  Homo sapiens

RGD ID: 401779382
ClinVar ID: CV2680261
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105378598  TTC34  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 2,700,189
GRCh38 1 2,783,644
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001242672.3:c.2191C>T
NC_000001.11:g.2783644G>A
NC_000001.10:g.2700189G>A
NM_001242672.1:c.652C>T
More... 		06/12/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TTC34
Accession:NM_001242672
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 731
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSAQELVACLCREGEQHLALGELPLATAFYLAAFSCHAPSALQSVRTALAQARGAAVVATLESWCRGDSQIPAIHWDGM
AVVSLTGSLASAFLGALCPDHPAAILHLLAGLLARGRHEEVVQRCSALLDSHAQQVLELRLTRALAWVLSGVQAADGVAA
YLQAFASSADRTVAFIRTHQRPHLPALLSALQDYLSGHPEAGHSAGQQETGGQRLLAALDPRGTRSDTLSPEALLHSGRF
EDCLAACSRALEAHPTGSEPQGERRAALLVTRAASAFFLDGRAQDVFWNLQEAFRESPSGARRQFQAVFSVQDQERVRAQ
AQEAADVGFARFQEAVRNHPELREDAGRELLAPVTRALRVLLRLAPAGARPALGARLAECLLLAGDAAGARAMCERLLRP
ARPEDPAGDRAGDRAPLLALRGFCALHAGDSRRAMEDFQTVVEQGAPHPGGCVRALCGRGLLRVLAGSAFLGTLDYVTAC
RLRPEEALLAAKAYVPWNQRGLLLVVLREEARGMLQRSPRAGPSRAQGRREAAETGGPTTQEGVACGVHQLATLLMELDS
EDEASRLLAADALYRLGRLEETHKALLVALSRRPQAAPVLARLALLQLRRGFFYDANQLVKKLVQSGDTACLQPTLDVFC
HEDRQLLQGHCHARALAILRARPGGADGRVHTKEAIAYLSLAIFAAGSQASESLLARARCYGFLGQKKTAMFDFNTVLRA
EPGNVQALCGWALVHLALDQLQEAVDDIVSALKLGPGTVVPELRSLKPEAQALITQGLYSHCRALLSQLPDTGAPLEDKD
TQGLLAVGEALIKIDSGQPHWHLLLADILMAQGSYEEAGTHLEKALHRAPTSEAARARLGLLQLKKGDVPGAARDLQSLA
EVDAPDLSCLLHLLEASERQSLAQAAAQEAGTLLDAGQPRQALGYCSLSVLASGSSACHLRLRATCLAELQEFGRALRDL
DHVLQEALGDGDLPRRAEDFCRQGRLLLSLGDEAAAAGAFAQALKLAPSLAQNSLCRQPGRAPTARMFLLRGQCCLEEQR
HAEAWTAVESGLLVDPDHRGLKRLKARIRREASSGCWLQ*

Gene Symbol:LOC105378598
Accession:XR_946858
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065368
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065380
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065365
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065369
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065367
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065363
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065379
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065376
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065373
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_946859
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065370
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065366
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065371
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065372
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_946846
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065375
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_946844
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065377
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065374
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065364
Location:INTRON;NON-CODING

Gene Symbol:LOC105378598
Accession:XR_007065378
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004286730 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TTC34 CLINVAR