RGD:401934533 Rat Genome Database

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Variant: RGD:401934533 -  Homo sapiens

RGD ID: 401934533
ClinVar ID: CV2817823
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KARS1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 75,678,321
GRCh38 16 75,644,423
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_366t1:c.6G>T
NM_001378148.1:c.-406-2700G>T
NM_005548.3:c.63-2700G>T
NM_001130089.2:c.6G>T
More... 		01/01/2023 intron variant uncertain significance AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:KARS1
Accession:NM_001378148
Location:5UTRS;INTRON

Gene Symbol:KARS1
Accession:NM_001130089
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 2
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFTQAAVRLVRGSLRKTSWAEWGHRELRLGQLAPFTAPHKDKSFSDQRSELKRRLKAEKKVAEKEAKQKELSEKQLSQAT
AAATNHTTDNGVGPEEESVDPNQYYKIRSQAIHQLKVNGEDPYPHKFHVDISLTDFIQKYSHLQPGDHLTDITLKVAGRI
HAKRASGGKLIFYDLRGEGVKLQVMANSRNYKSEEEFIHINNKLRRGDIIGVQGNPGKTKKGELSIIPYEITLLSPCLHM
LPHLHFGLKDKETRYRQRYLDLILNDFVRQKFIIRSKIITYIRSFLDELGFLEIETPMMNIIPGGAVAKPFITYHNELDM
NLYMRIAPELYHKMLVVGGIDRVYEIGRQFRNEGIDLTHNPEFTTCEFYMAYADYHDLMEITEKMVSGMVKHITGSYKVT
YHPDGPEGQAYDVDFTPPFRRINMVEELEKALGMKLPETNLFETEETRKILDDICVAKAVECPPPRTTARLLDKLVGEFL
EVTCINPTFICDHPQIMSPLAKWHRSKEGLTERFELFVMKKEICNAYTELNDPMRQRQLFEEQAKAKAAGDDEAMFIDEN
FCTALEYGLPPTAGWGMGIDRVAMFLTDSNNIKEVLLFPAMKPEDKKENVATTDTLESTTVGTSV*

Gene Symbol:KARS1
Accession:NM_005548
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003411427 CLINVAR
  RCV004364543 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KARS1 CLINVAR
OMIM 601421 CLINVAR