RGD:156287380 Rat Genome Database

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Variant: RGD:156287380 -  Homo sapiens

RGD ID: 156287380
ClinVar ID: CV2336099
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTC34  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 2,576,938
GRCh38 1 2,645,499
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.2291G>A
NC_000001.11:g.2645499C>T
NC_000001.10:g.2576938C>T
NM_001242672.1:c.752G>A
More... 		06/21/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TTC34
Accession:NM_001242672
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 764
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSAQELVACLCREGEQHLALGELPLATAFYLAAFSCHAPSALQSVRTALAQARGAAVVATLESWCRGDSQIPAIHWDGM
AVVSLTGSLASAFLGALCPDHPAAILHLLAGLLARGRHEEVVQRCSALLDSHAQQVLELRLTRALAWVLSGVQAADGVAA
YLQAFASSADRTVAFIRTHQRPHLPALLSALQDYLSGHPEAGHSAGQQETGGQRLLAALDPRGTRSDTLSPEALLHSGRF
EDCLAACSRALEAHPTGSEPQGERRAALLVTRAASAFFLDGRAQDVFWNLQEAFRESPSGARRQFQAVFSVQDQERVRAQ
AQEAADVGFARFQEAVRNHPELREDAGRELLAPVTRALRVLLRLAPAGARPALGARLAECLLLAGDAAGARAMCERLLRP
ARPEDPAGDRAGDRAPLLALRGFCALHAGDSRRAMEDFQTVVEQGAPHPGGCVRALCGRGLLRVLAGSAFLGTLDYVTAC
RLRPEEALLAAKAYVPWNQRGLLLVVLREEARGMLQRSPRAGPSRAQGRREAAETGGPTTQEGVACGVHQLATLLMELDS
EDEASRLLAADALYRLGRLEETHKALLVALSRRPQAAPVLARLALLQLRRGFFYDANQLVKKLVQSGDTACLQPTLDVFC
HEDRQLLQGHCHARALAILRARPGGADGRVHTKEAIAYLSLAIFAAGSQASESLLARARCYGFLGQKKTAMFDFNTVLRA
EPGNVQALCGRALVHLALDQLQEAVDDIVSALKLGPGTVVPELHSLKPEAQALITQGLYSHCRALLSQLPDTGAPLEDKD
TQGLLAVGEALIKIDSGQPHWHLLLADILMAQGSYEEAGTHLEKALHRAPTSEAARARLGLLQLKKGDVPGAARDLQSLA
EVDAPDLSCLLHLLEASERQSLAQAAAQEAGTLLDAGQPRQALGYCSLSVLASGSSACHLRLRATCLAELQEFGRALRDL
DHVLQEALGDGDLPRRAEDFCRQGRLLLSLGDEAAAAGAFAQALKLAPSLAQNSLCRQPGRAPTARMFLLRGQCCLEEQR
HAEAWTAVESGLLVDPDHRGLKRLKARIRREASSGCWLQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004189695 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TTC34 CLINVAR