RGD:11610624 Rat Genome Database

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Variant: RGD:11610624 -  Homo sapiens

RGD ID: 11610624
RS ID: rs113256550
ClinVar ID: CV310655
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLHL7  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 23,213,734
GRCh38 7 23,174,115
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.23174115T>C
NC_000007.13:g.23213734T>C
NP_001026880.2:p.Val526=
NM_018846.5:c.1434T>C
More... 		12/31/2019 non-coding transcript variant|synonymous variant benign|likely benign none provided; Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KLHL7
Accession:NM_018846
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 478
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVELKDAEPDIIEQLVEFAYTARISVNSNNVQSLLDAANQYQIEP
VKKMCVDFLKEQVDASNCLGISVLAECLDCPELKATADDFIHQHFTEVYKTDEFLQLDVKRVTHLLNQDTLTVRAEDQVY
DAAVRWLKYDEPNRQPFMVDILAKVRFPLISKNFLSKTVQAEPLIQDNPECLKMVISGMRYHLLSPEDREELVDGTRPRR
KKHDYRIALFGGSQPQSCRYFNPKDYSWTDIRCPFEKRRDAACVFWDNVVYILGGSQLFPIKRMDCYNVVKDSWYSKLGP
PTPRDSLAACAAEGKIYTSGGSEVGNSALYLFECYDTRTESWHTKPSMLTQRCSHGMVEANGLIYVCGGSLGNNVSGRVL
NSCEVYDPATETWTELCPMIEARKNHGLVFVKDKIFAVGGQNGLGGLDNVEYYDIKLNEWKMVSPMPWKGVTVKCAAVGS
IVYVLAGFQGVGRLGHILEYNTETDKWVANSKVRAFPVTSCLICVVDTCGANEETLET*

Gene Symbol:KLHL7
Accession:NM_001031710
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 526
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAASHFFNLMFTTNMLES
KSFEVELKDAEPDIIEQLVEFAYTARISVNSNNVQSLLDAANQYQIEPVKKMCVDFLKEQVDASNCLGISVLAECLDCPE
LKATADDFIHQHFTEVYKTDEFLQLDVKRVTHLLNQDTLTVRAEDQVYDAAVRWLKYDEPNRQPFMVDILAKVRFPLISK
NFLSKTVQAEPLIQDNPECLKMVISGMRYHLLSPEDREELVDGTRPRRKKHDYRIALFGGSQPQSCRYFNPKDYSWTDIR
CPFEKRRDAACVFWDNVVYILGGSQLFPIKRMDCYNVVKDSWYSKLGPPTPRDSLAACAAEGKIYTSGGSEVGNSALYLF
ECYDTRTESWHTKPSMLTQRCSHGMVEANGLIYVCGGSLGNNVSGRVLNSCEVYDPATETWTELCPMIEARKNHGLVFVK
DKIFAVGGQNGLGGLDNVEYYDIKLNEWKMVSPMPWKGVTVKCAAVGSIVYVLAGFQGVGRLGHILEYNTETDKWVANSK
VRAFPVTSCLICVVDTCGANEETLET*

Gene Symbol:KLHL7
Accession:NR_033328
Location:EXON;NON-CODING

Gene Symbol:KLHL7
Accession:NM_001172428
Location:INTRON

Gene Symbol:KLHL7
Accession:XM_047420615
Location:INTRON

Gene Symbol:KLHL7
Accession:XM_006715757
Location:INTRON

Gene Symbol:KLHL7
Accession:XM_017012440
Location:INTRON

Gene Symbol:KLHL7
Accession:NR_033329
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000383737 CLINVAR
  RCV000965036 CLINVAR
dbSNP (RS) rs113256550 CLINVAR
MedGen C0035334 CLINVAR
  C3661900 CLINVAR
NCBI Gene KLHL7 CLINVAR
OMIM 268000 CLINVAR
  611119 CLINVAR
SNOMED CT 28835009 CLINVAR