RGD:9684003 Rat Genome Database

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Variant: RGD:9684003 -  Homo sapiens

RGD ID: 9684003
RS ID: rs76843552
ClinVar ID: CV168891
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130008755  TCTN1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 111,052,219
GRCh38 12 110,614,414
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_030381.1:g.5388G>C
NC_000012.12:g.110614414G>C
NC_000012.11:g.111052219G>C
NP_001167446.1:p.Met1Ile
More... 		08/23/2017 initiatior codon variant|initiator_codon_variant|intron variant benign|likely benign|conflicting interpretations of pathogenicity antenatal 1-9 / 100 000 AllHighlyPenetrant; Cerebelloparenchymal disorder 4; CEREBELLOPARENCHYMAL DISORDER IV; Dysencephalia splachnocystica; DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Meckel-Gruber syndrome; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TCTN1
Accession:NM_001319681
Location:5UTRS;INTRON

Gene Symbol:TCTN1
Accession:XM_006719595
Location:5UTRS;INTRON

Gene Symbol:TCTN1
Accession:NM_001173976
Location:5UTRS;INTRON

Gene Symbol:TCTN1
Accession:XM_006719597
Location:5UTRS;INTRON

Gene Symbol:TCTN1
Accession:XM_047429544
Location:5UTRS;INTRON

Gene Symbol:TCTN1
Accession:XM_006719594
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
ICQLLESTVIQPQGDSPVAVLCVCDLSPAQCDINCCCDPDCSSVDFSVFSACSVPVVTGDSQFCSQKAVIYSLNFTANPP
QRVFELVDQINPSIFCIHITNYKPALSFINPEVPDENNFDTLMKTSDGFTLNAESYVSFTTKLDIPTAAKYEYGVPLQTS
DSFLRFPSSLTSSLCTDNNPAAFLVNQAVKCTRKINLEQCEEIEALSMAFYSSPEILRVPDSRKKVPITVQSIVIQSLNK
TLTRREDTDVLQPTLVNAGHFSLCVNVVLEVKYSLTYTDAGEVTKADLSFVLGTVSSVVVPLQQKFEIHFLQENTQPVPL
SGNPGYVVGLPLAAGFQPHKGSGIIQTTNRYGQLTILHSTTEQDCLALEGVRTPVLFGYTMQSGCKLRLTGALPCQLVAQ
KVKSLLWGQGFPDYVAPFGNSQAQDMLDWVPIHFITQSFNRKHFVLQDSCQLPGALVIEVKWTKYGSLLNPQAKIVNVTA
NLISSSFPEANSGNERTILISTAVTFVDVSAPAEAGFRAPPAINARLPFNFFFPFV*

Gene Symbol:TCTN1
Accession:XM_017019964
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
ICQLLESTVIQPQGDSPVAVLCVCDLSPAQCDINCCCDPDCSSVDFSVFSACSVPVVTGDSQFCSQKAVIYSLNFTANPP
QRVFELVDQINPSIFCIHITNYKPALSFINPEVPDENNFDTLMKTSDGFTLNAESYVSFTTKLDIPTAAKYEYGVPLQTS
DSFLRFPSSLTSSLCTDNNPAAFLVNQAVKCTRKINLEQCEEIEALSMAFYSSPEILRVPDSRKKVPITVQSIVIQSLNK
TLTRREDTDVLQPTLVNAGHFSLCVNVVLEVKYSLTYTDAGEVTKADLSFVLGTVSSVVVPLQQKFEIHFLQENTQPVPL
SGNPGYVVGLPLAAGFQPHKGGALPCQLVAQKVKSLLWGQGFPDYVAPFGNSQAQDMLDWVPIHFITQSFNRKDSCQLPG
ALVIEVKWTKYGSLLNPQAKIVNVTANLISSSFPEANSGNERTILISTAVTFVDVSAPAEAGFRAPPAINARLPFNFFFP
FV*

Gene Symbol:TCTN1
Accession:NM_001319682
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
ICQLLESTVIQPQGDSPVAVLCVCDLSPAQCDINCCCDPDCSSVDFSVFSACSVPVVTGDSQFCSQKAVIYSLNFTANPP
QRVFELVDQINPSIFCIHITNYKPALSFINPEVPDENNFDTLMKTSDGFTLNAESYVSFTTKLDIPTAAKYEVSLNLIDS
FHPITNIFPCKLIFKVTRKTGFLETELIL*

Gene Symbol:TCTN1
Accession:XM_047429539
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
ICQLLESTVIQPQGDSPVAVLCVCDLSPAQCDINCCCDPDCSSVDFSVFSACSVPVVTGDSQFCSQKAVIYSLNFTANPP
QRVFELVDQINPSIFCIHITNYKPALSFINPEVPDENNFDTLMKTSDGFTLNAESYVSFTTKLDIPTAAKYEYGVPLQTS
DSFLRFPSSLTSSLCTDNNPAAFLVNQAVKCTRKINLEQCEEIEALSMAFYSSPEILRVPDSRKKVPITVQSIVIQSLNK
TLTRREDTDVLQPTLVNAGHFSLCVNVVLEVKYSLTYTDAGEVTKADLSFVLGTVSSVVVPLQQKFEIHFLQTDWSSPVS
ARSTEGEEPAVGPGLPRLRGPFWKFPGPGHAGLGAHPLHHPVIQQEGKGEKDSCQLPGALVIEVKWTKYGSLLNPQAKIV
NVTANLISSSFPEANSGNERTILISTAVTFVDVSAPAEAGFRAPPAINARLPFNFFFPFV*

Gene Symbol:TCTN1
Accession:XM_011538734
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPRGLPPLLVVLLGCWASVSAQTDATPAVTTEGLNSTEAALATFGTFPSTRPPGTPRAPGPSSGPRPTPVTDGGYHLPA
PGVHSDPTSRGQPRGDSQFCSQKAVIYSLNFTANPPQRVFELVDQINPSIFCIHITNYKPALSFINPEVPDENNFDTLMK
TSDGFTLNAESYVSFTTKLDIPTAAKYEYGVPLQTSDSFLRFPSSLTSSLCTDNNPAAFLVNQAVKCTRKINLEQCEEIE
ALSMAFYSSPEILRVPDSRKKVPITVQSIVIQSLNKTLTRREDTDVLQPTLVNAGHFSLCVNVVLEVKYSLTYTDAGEVT
KADLSFVLGTVSSVVVPLQQKFEIHFLQENTQPVPLSGNPGYVVGLPLAAGFQPHKGSGIIQTTNRYGQLTILHSTTEQD
CLALEGVRTPVLFGYTMQSGCKLRLTGALPCQLVAQKVKSLLWGQGFPDYVAPFGNSQAQDMLDWVPIHFITQSFNRKHF
VLQDSCQLPGALVIEVKWTKYGSLLNPQAKIVNVTANLISSSFPEANSGNERTILISTAVTFVDVSAPAEAGFRAPPAIN
ARLPFNFFFPFV*

Gene Symbol:TCTN1
Accession:NM_001173975
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
ICQLLESTVIQPQGDSPVAVLCVCDLSPAQCDINCCCDPDCSSVDFSVFSACSVPVVTGDSQFCSQKAVIYSLNFTANPP
QRVFELVDQINPSIFCIHITNYKPALSFINPEVPDENNFDTLMKTSDGFTLNAESYVSFTTKLDIPTAAKYEYGVPLQTS
DSFLRFPSSLTSSLCTDNNPAAFLVNQAVKCTRKINLEQCEEIEALSMAFYSSPEILRVPDSRKKVPITVQSIVIQSLNK
TLTRREDTDVLQPTLVNAGHFSLCVNVVLEVKYSLTYTDAGEVTKADLSFVLGTVSSVVVPLQQKFEIHFLQENTQPVPL
SGNPGYVVGLPLAAGFQPHKGSGIIQTTNRYGQLTILHSTTEQDCLALEGVRTPVLFGYTMQSGCKLRLTGALPCQLVAQ
KVKSLLWGQGFPDYVAPFGNSQAQDMLDWVPIHFITQSFNRKDSCQLPGALVIEVKWTKYGSLLNPQAKIVNVTANLISS
SFPEANSGNERTILISTAVTFVDVSAPAEAGFRAPPAINARLPFNFFFPFV*

Gene Symbol:TCTN1
Accession:NR_135088
Location:EXON;NON-CODING

Gene Symbol:TCTN1
Accession:XM_047429536
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429538
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429537
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_011538733
Location:INTRON

Gene Symbol:TCTN1
Accession:NM_001319680
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429542
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429543
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_006719600
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_011538735
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429540
Location:INTRON

Gene Symbol:TCTN1
Accession:NM_024549
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_005253935
Location:INTRON

Gene Symbol:TCTN1
Accession:NM_001082537
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_006719598
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_011538738
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_005253934
Location:INTRON

Gene Symbol:TCTN1
Accession:NM_001082538
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_011538737
Location:INTRON

Gene Symbol:TCTN1
Accession:XM_047429541
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000147734 CLINVAR
  RCV000334707 CLINVAR
  RCV000513867 CLINVAR
  RCV001521204 CLINVAR
dbSNP (RS) rs76843552 CLINVAR
MedGen C0431399 CLINVAR
  C3280031 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LOC130008755 CLINVAR
  TCTN1 CLINVAR
OMIM 213300 CLINVAR
  249000 CLINVAR
  609863 CLINVAR
  614173 CLINVAR
SNOMED CT 253175003 CLINVAR