RGD:13809223 Rat Genome Database

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Variant: RGD:13809223 -  Homo sapiens

RGD ID: 13809223
RS ID: rs1568572979
ClinVar ID: CV571231
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PANK2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 3,891,341
GRCh38 20 3,910,694
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_153638.4:c.1099G>T
NM_153640.4:c.226G>T
NG_008131.3:g.26856G>T
NC_000020.11:g.3910694G>T
More... 		01/03/2019 5 prime utr variant|missense variant uncertain significance Hallervorden-Spatz disease; HARP SYNDROME; Neuroaxonal dystrophy, late infantile; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PANK2
Accession:NM_001324193
Location:5UTRS;EXON

Gene Symbol:PANK2
Accession:NM_001324191
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPSDSEK
CQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVR
DIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAM
RLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP*

Gene Symbol:PANK2
Accession:NM_153638
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRLGPFHPRVHWAAPPSLSSGLHRLLFLRGTRIPSSTTLSPPRHDSLSLDGGTVNPPRVREPTGREAFGPSPASSDWLP
ARWRNGRGGRPRARLCSGWTAAEEARRNPTLGGLLGRQRLLLRMGGGRLGAPMERHGRASATSVSSAGEQAAGDPEGRRQ
EPLRRRASSASVPAVGASAEGTRRDRLGSYSGPTSVSRQRVESLRKKRPLFPWFGLDIGGTLVKLVYFEPKDITAEEEEE
EVESLKSIRKYLTSNVAYGSTGIRDVHLELKDLTLCGRKGNLHFIRFPTHDMPAFIQMGRDKNFSSLHTVFCATGGGAYK
FEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPSDSEKCQKLPFDLKNPYPLLLVNIGSGVSILAVY
SKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEK
REAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAV
GALLELLKIP*

Gene Symbol:PANK2
Accession:NM_024960
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPSDSEK
CQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVR
DIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAM
RLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP*

Gene Symbol:PANK2
Accession:NM_153640
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPSDSEK
CQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVR
DIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAM
RLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP*

Gene Symbol:PANK2
Accession:NM_001386393
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LGGLLGRQRLLLRMGGGRLGAPMERHGRASATSVSSAGEQAAGDPEGRRQEPLRRRASSASVPAVGASAEGTRRDRLGSY
SGPTSVSRQRVESLRKKRPLFPWFGLDIGGTLVKLVYFEPKDITAEEEEEEVESLKSIRKYLTSNVAYGSTGIRDVHLEL
KDLTLCGRKGNLHFIRFPTHDMPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYID
SVGFNGRSQCYYFENPSDSEKCQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTT
FEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNIGSIARMCAL
NENINQVVFVGNFLRINTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP*

Gene Symbol:PANK2
Accession:NR_136715
Location:EXON;NON-CODING

Gene Symbol:PANK2
Accession:NM_001324192
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000687658 CLINVAR
  RCV002544785 CLINVAR
dbSNP (RS) rs1568572979 CLINVAR
MedGen C0018523 CLINVAR
  C0950123 CLINVAR
NCBI Gene PANK2 CLINVAR
OMIM 234200 CLINVAR
  606157 CLINVAR
SNOMED CT 2992000 CLINVAR