RGD:401743767 Rat Genome Database

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Variant: RGD:401743767 -  Homo sapiens

RGD ID: 401743767
ClinVar ID: CV2696977
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARPC4-TTLL3  LOC129936138  TTLL3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 9,851,820
GRCh38 3 9,810,136
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001387454.1:c.-42+214G>A
NM_001198793.1:c.331-2807G>A
NG_169149.1:g.273G>A
NC_000003.12:g.9810136G>A
More... 		06/12/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TTLL3
Accession:NM_001387460
Location:5UTRS;INTRON

Gene Symbol:TTLL3
Accession:NM_001387467
Location:5UTRS;INTRON

Gene Symbol:TTLL3
Accession:NM_001387465
Location:5UTRS;INTRON

Gene Symbol:TTLL3
Accession:NM_001387455
Location:5UTRS;INTRON

Gene Symbol:TTLL3
Accession:NM_001387454
Location:5UTRS;INTRON

Gene Symbol:TTLL3
Accession:NM_001387448
Location:5UTRS;INTRON

Gene Symbol:TTLL3
Accession:NM_001387459
Location:5UTRS;INTRON

Gene Symbol:TTLL3
Accession:NM_001387464
Location:5UTRS;INTRON

Gene Symbol:TTLL3
Accession:NM_001025930
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQGPDAPLLLSARELGPGRRGSASWYRQEGGAVCNWLRKPQPLKPRTSFPSARRSEFRPPRRLPWAGPASAQSEEGHAGG
RCQAGSPAPARRLSGAFKTLVPGTHAQGASDTHPLGPPHTPVLDPSPQDGFPVLWRGSSKASHMNRLRNAKIYVERAVKQ
KKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLDSSAMGDSDTTEDEDEDEDEEFQPSQLFDFDDLLKFDD
LDGTHALMVGLCLNLRNLPWFDEVDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKSEWKSYPIQAVEEEASG
DKQPKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQVVHEGAELRHLDTQVQRC
EDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLEEMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDL
RQWFLVTDWNPLTVWFYRDSYIRFSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAP
NAWSTIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINASPTMAPSTAVTARLCAGVQADTLRV
VIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKKPMAMCHRRMGVRPAVPLLTQRGSGEARHHFPSLHTKA
QLPSPHVLRHQGQVLRRQHSKLVGTKALSTTGKALRTLPTAKVFISLPPNLDFKVAPSILKPRKAPALLCLRGPQLEVPC
CLCPLKSEQFLAPVGRSRPKANSRPDCDKPRAEACPMKRLSPLKPLPLVGTFQRRRGLGDMKLGKPLLRFPTALVLDPTP
NKKKQVKYLGLDSIAVGGSRVDGARPCTPGSTARA*

Gene Symbol:TTLL3
Accession:NM_001387456
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001387450
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001387457
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001387451
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001387458
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001387466
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001387453
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001387463
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001387447
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001387461
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001387446
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001387449
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001387462
Location:INTRON

Gene Symbol:ARPC4-TTLL3
Accession:NM_001198793
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001366051
Location:INTRON

Gene Symbol:TTLL3
Accession:NM_001387452
Location:INTRON

Gene Symbol:TTLL3
Accession:NR_037162
Location:INTRON;NON-CODING

Gene Symbol:TTLL3
Accession:NR_170661
Location:INTRON;NON-CODING

Gene Symbol:TTLL3
Accession:NR_170662
Location:INTRON;NON-CODING

Gene Symbol:TTLL3
Accession:NR_170664
Location:INTRON;NON-CODING

Gene Symbol:TTLL3
Accession:NR_170663
Location:INTRON;NON-CODING

Gene Symbol:TTLL3
Accession:NR_170665
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004292969 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ARPC4-TTLL3 CLINVAR
  LOC129936138 CLINVAR
  TTLL3 CLINVAR
OMIM 619195 CLINVAR