RGD:401935271 Rat Genome Database

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Pathways
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Variant: RGD:401935271 -  Homo sapiens

RGD ID: 401935271
ClinVar ID: CV2805569
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTC34  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 2,717,333
GRCh38 1 2,800,768
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.60G>A
NC_000001.11:g.2800768C>T
NC_000001.10:g.2717333C>T
NP_001229601.2:p.Ala20=
 01/01/2023 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TTC34
Accession:NM_001242672
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSAQELVACLCREGEQHLALGELPLATAFYLAAFSCHAPSALQSVRTALAQARGAAVVATLESWCRGDSQIPAIHWDGM
AVVSLTGSLASAFLGALCPDHPAAILHLLAGLLARGRHEEVVQRCSALLDSHAQQVLELRLTRALAWVLSGVQAADGVAA
YLQAFASSADRTVAFIRTHQRPHLPALLSALQDYLSGHPEAGHSAGQQETGGQRLLAALDPRGTRSDTLSPEALLHSGRF
EDCLAACSRALEAHPTGSEPQGERRAALLVTRAASAFFLDGRAQDVFWNLQEAFRESPSGARRQFQAVFSVQDQERVRAQ
AQEAADVGFARFQEAVRNHPELREDAGRELLAPVTRALRVLLRLAPAGARPALGARLAECLLLAGDAAGARAMCERLLRP
ARPEDPAGDRAGDRAPLLALRGFCALHAGDSRRAMEDFQTVVEQGAPHPGGCVRALCGRGLLRVLAGSAFLGTLDYVTAC
RLRPEEALLAAKAYVPWNQRGLLLVVLREEARGMLQRSPRAGPSRAQGRREAAETGGPTTQEGVACGVHQLATLLMELDS
EDEASRLLAADALYRLGRLEETHKALLVALSRRPQAAPVLARLALLQLRRGFFYDANQLVKKLVQSGDTACLQPTLDVFC
HEDRQLLQGHCHARALAILRARPGGADGRVHTKEAIAYLSLAIFAAGSQASESLLARARCYGFLGQKKTAMFDFNTVLRA
EPGNVQALCGRALVHLALDQLQEAVDDIVSALKLGPGTVVPELRSLKPEAQALITQGLYSHCRALLSQLPDTGAPLEDKD
TQGLLAVGEALIKIDSGQPHWHLLLADILMAQGSYEEAGTHLEKALHRAPTSEAARARLGLLQLKKGDVPGAARDLQSLA
EVDAPDLSCLLHLLEASERQSLAQAAAQEAGTLLDAGQPRQALGYCSLSVLASGSSACHLRLRATCLAELQEFGRALRDL
DHVLQEALGDGDLPRRAEDFCRQGRLLLSLGDEAAAAGAFAQALKLAPSLAQNSLCRQPGRAPTARMFLLRGQCCLEEQR
HAEAWTAVESGLLVDPDHRGLKRLKARIRREASSGCWLQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003412694 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TTC34 CLINVAR