RGD:156390725 Rat Genome Database

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Variant: RGD:156390725 -  Homo sapiens

RGD ID: 156390725
ClinVar ID: CV2383344
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTC34  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 2,575,719
GRCh38 1 2,644,280
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.2696G>A
NC_000001.11:g.2644280C>T
NC_000001.10:g.2575719C>T
NM_001242672.1:c.1157G>A
More... 		04/25/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TTC34
Accession:NM_001242672
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 899
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSAQELVACLCREGEQHLALGELPLATAFYLAAFSCHAPSALQSVRTALAQARGAAVVATLESWCRGDSQIPAIHWDGM
AVVSLTGSLASAFLGALCPDHPAAILHLLAGLLARGRHEEVVQRCSALLDSHAQQVLELRLTRALAWVLSGVQAADGVAA
YLQAFASSADRTVAFIRTHQRPHLPALLSALQDYLSGHPEAGHSAGQQETGGQRLLAALDPRGTRSDTLSPEALLHSGRF
EDCLAACSRALEAHPTGSEPQGERRAALLVTRAASAFFLDGRAQDVFWNLQEAFRESPSGARRQFQAVFSVQDQERVRAQ
AQEAADVGFARFQEAVRNHPELREDAGRELLAPVTRALRVLLRLAPAGARPALGARLAECLLLAGDAAGARAMCERLLRP
ARPEDPAGDRAGDRAPLLALRGFCALHAGDSRRAMEDFQTVVEQGAPHPGGCVRALCGRGLLRVLAGSAFLGTLDYVTAC
RLRPEEALLAAKAYVPWNQRGLLLVVLREEARGMLQRSPRAGPSRAQGRREAAETGGPTTQEGVACGVHQLATLLMELDS
EDEASRLLAADALYRLGRLEETHKALLVALSRRPQAAPVLARLALLQLRRGFFYDANQLVKKLVQSGDTACLQPTLDVFC
HEDRQLLQGHCHARALAILRARPGGADGRVHTKEAIAYLSLAIFAAGSQASESLLARARCYGFLGQKKTAMFDFNTVLRA
EPGNVQALCGRALVHLALDQLQEAVDDIVSALKLGPGTVVPELRSLKPEAQALITQGLYSHCRALLSQLPDTGAPLEDKD
TQGLLAVGEALIKIDSGQPHWHLLLADILMAQGSYEEAGTHLEKALHRAPTSEAARARLGLLQLKKGDVPGAARDLQSLA
EVDAPDLSCLLHLLEASEQQSLAQAAAQEAGTLLDAGQPRQALGYCSLSVLASGSSACHLRLRATCLAELQEFGRALRDL
DHVLQEALGDGDLPRRAEDFCRQGRLLLSLGDEAAAAGAFAQALKLAPSLAQNSLCRQPGRAPTARMFLLRGQCCLEEQR
HAEAWTAVESGLLVDPDHRGLKRLKARIRREASSGCWLQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004222379 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TTC34 CLINVAR