RGD:14693803 Rat Genome Database

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Variant: RGD:14693803 -  Homo sapiens

RGD ID: 14693803
RS ID: rs1562571985
ClinVar ID: CV620258
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLHL7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 23,180,561
GRCh38 7 23,140,942
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001031710.3:c.616C>T
NG_016983.2:g.40209C>T
NC_000007.14:g.23140942C>T
NC_000007.13:g.23180561C>T
More... 		01/11/2018 non-coding transcript variant|nonsense uncertain significance 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:XM_006715757
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAASHFFNLMFTTNMLES
KSFEVELKDAEPDIIEQLVEFAYTARISVNSNNVQSLLDAANQYQIEPVKKMCVDFLKEQVDASNCLGEAEKVDQSLPEC
GISVLAECLDCPELKATADDFIHQHFTEVYKTDEFLQLDVKRVTHLLNQDTLTVRAED*VYDAAVRWLKYDEPNRQPFMV
DILAKVRFPLISKNFLSKTVQAEPLIQDNPECLKMVISGMRYHLLSPEDREELVDGTRPRRKKHDYRIALFGGSQPQSCR
YFNPKLKRDAYSSTRAWK*

Gene Symbol:KLHL7
Accession:XM_047420615
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGGTDCRTFLTSHINLKKTLCDVILMVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVELKDAEPDIIEQLVEFA
YTARISVNSNNVQSLLDAANQYQIEPVKKMCVDFLKEQVDASNCLGISVLAECLDCPELKATADDFIHQHFTEVYKTDEF
LQLDVKRVTHLLNQDTLTVRAED*VYDAAVRWLKYDEPNRQPFMVDILAKVRFPLISKNFLSKTVQAEPLIQDNPECLKM
VISGMRYHLLSPEDREELVDGTRPRRKKHDYRIALFGGSQPQSCRYFNPKLKRDAYSSTRAWK*

Gene Symbol:KLHL7
Accession:XM_017012440
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAASHFFNLMFTTNMLES
KSFEVELKDAEPDIIEQLVEFAYTARISVNSNNVQSLLDAANQYQIEPVKKMCVDFLKEQVDASNCLGISVLAECLDCPE
LKATADDFIHQHFTEVYKTDEFLQLDVKRVTHLLNQDTLTVRAED*VYDAAVRWLKYDEPNRQPFMVDILAKVRFPLISK
NFLSKTVQAEPLIQDNPECLKMVISGMRYHLLSPEDREELVDGTRPRRKKHDYRIALFGGSQPQSCRYFNPKLKRDAYSS
TRAWK*

Gene Symbol:KLHL7
Accession:NM_001031710
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAASHFFNLMFTTNMLES
KSFEVELKDAEPDIIEQLVEFAYTARISVNSNNVQSLLDAANQYQIEPVKKMCVDFLKEQVDASNCLGISVLAECLDCPE
LKATADDFIHQHFTEVYKTDEFLQLDVKRVTHLLNQDTLTVRAED*VYDAAVRWLKYDEPNRQPFMVDILAKVRFPLISK
NFLSKTVQAEPLIQDNPECLKMVISGMRYHLLSPEDREELVDGTRPRRKKHDYRIALFGGSQPQSCRYFNPKDYSWTDIR
CPFEKRRDAACVFWDNVVYILGGSQLFPIKRMDCYNVVKDSWYSKLGPPTPRDSLAACAAEGKIYTSGGSEVGNSALYLF
ECYDTRTESWHTKPSMLTQRCSHGMVEANGLIYVCGGSLGNNVSGRVLNSCEVYDPATETWTELCPMIEARKNHGLVFVK
DKIFAVGGQNGLGGLDNVEYYDIKLNEWKMVSPMPWKGVTVKCAAVGSIVYVLAGFQGVGRLGHILEYNTETDKWVANSK
VRAFPVTSCLICVVDTCGANEETLET*

Gene Symbol:KLHL7
Accession:NM_018846
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVELKDAEPDIIEQLVEFAYTARISVNSNNVQSLLDAANQYQIEP
VKKMCVDFLKEQVDASNCLGISVLAECLDCPELKATADDFIHQHFTEVYKTDEFLQLDVKRVTHLLNQDTLTVRAED*VY
DAAVRWLKYDEPNRQPFMVDILAKVRFPLISKNFLSKTVQAEPLIQDNPECLKMVISGMRYHLLSPEDREELVDGTRPRR
KKHDYRIALFGGSQPQSCRYFNPKDYSWTDIRCPFEKRRDAACVFWDNVVYILGGSQLFPIKRMDCYNVVKDSWYSKLGP
PTPRDSLAACAAEGKIYTSGGSEVGNSALYLFECYDTRTESWHTKPSMLTQRCSHGMVEANGLIYVCGGSLGNNVSGRVL
NSCEVYDPATETWTELCPMIEARKNHGLVFVKDKIFAVGGQNGLGGLDNVEYYDIKLNEWKMVSPMPWKGVTVKCAAVGS
IVYVLAGFQGVGRLGHILEYNTETDKWVANSKVRAFPVTSCLICVVDTCGANEETLET*

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

Gene Symbol:KLHL7
Accession:NM_001172428
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000779533 CLINVAR
dbSNP (RS) rs1562571985 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene KLHL7 CLINVAR
OMIM 268000 CLINVAR
  611119 CLINVAR
SNOMED CT 28835009 CLINVAR