RGD:155913165 Rat Genome Database

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Variant: RGD:155913165 -  Homo sapiens

RGD ID: 155913165
ClinVar ID: CV2341722
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTC34  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 2,573,234
GRCh38 1 2,641,795
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.2641795C>A
NC_000001.10:g.2573234C>A
NM_001242672.1:c.1274G>T
NP_001229601.2:p.Cys938Phe
More... 		04/25/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TTC34
Accession:NM_001242672
Location:EXON
Amino Acid Prediction: C to F (nonsynonymous)
Amino Acid Position: 938
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSAQELVACLCREGEQHLALGELPLATAFYLAAFSCHAPSALQSVRTALAQARGAAVVATLESWCRGDSQIPAIHWDGM
AVVSLTGSLASAFLGALCPDHPAAILHLLAGLLARGRHEEVVQRCSALLDSHAQQVLELRLTRALAWVLSGVQAADGVAA
YLQAFASSADRTVAFIRTHQRPHLPALLSALQDYLSGHPEAGHSAGQQETGGQRLLAALDPRGTRSDTLSPEALLHSGRF
EDCLAACSRALEAHPTGSEPQGERRAALLVTRAASAFFLDGRAQDVFWNLQEAFRESPSGARRQFQAVFSVQDQERVRAQ
AQEAADVGFARFQEAVRNHPELREDAGRELLAPVTRALRVLLRLAPAGARPALGARLAECLLLAGDAAGARAMCERLLRP
ARPEDPAGDRAGDRAPLLALRGFCALHAGDSRRAMEDFQTVVEQGAPHPGGCVRALCGRGLLRVLAGSAFLGTLDYVTAC
RLRPEEALLAAKAYVPWNQRGLLLVVLREEARGMLQRSPRAGPSRAQGRREAAETGGPTTQEGVACGVHQLATLLMELDS
EDEASRLLAADALYRLGRLEETHKALLVALSRRPQAAPVLARLALLQLRRGFFYDANQLVKKLVQSGDTACLQPTLDVFC
HEDRQLLQGHCHARALAILRARPGGADGRVHTKEAIAYLSLAIFAAGSQASESLLARARCYGFLGQKKTAMFDFNTVLRA
EPGNVQALCGRALVHLALDQLQEAVDDIVSALKLGPGTVVPELRSLKPEAQALITQGLYSHCRALLSQLPDTGAPLEDKD
TQGLLAVGEALIKIDSGQPHWHLLLADILMAQGSYEEAGTHLEKALHRAPTSEAARARLGLLQLKKGDVPGAARDLQSLA
EVDAPDLSCLLHLLEASERQSLAQAAAQEAGTLLDAGQPRQALGYCSLSVLASGSSAFHLRLRATCLAELQEFGRALRDL
DHVLQEALGDGDLPRRAEDFCRQGRLLLSLGDEAAAAGAFAQALKLAPSLAQNSLCRQPGRAPTARMFLLRGQCCLEEQR
HAEAWTAVESGLLVDPDHRGLKRLKARIRREASSGCWLQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004182639 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TTC34 CLINVAR