RGD:13813669 Rat Genome Database

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Variant: RGD:13813669 -  Homo sapiens

RGD ID: 13813669
RS ID: rs1416234460
ClinVar ID: CV572887
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130065345  PANK2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 3,870,219
GRCh38 20 3,889,572
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001373322.1:p.Arg48Gly
NG_008131.3:g.5734C>G
NC_000020.11:g.3889572C>G
NC_000020.10:g.3870219C>G
More... 		07/02/2018 5 prime utr variant|intron 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_001324191
Location:5UTRS;EXON

Gene Symbol:PANK2
Accession:NM_024960
Location:5UTRS;INTRON

Gene Symbol:PANK2
Accession:NM_001386393
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LGGLLGRQRLLLRMGGGRLGAPMERHGRASATSVSSAGEQAAGDPEGGRQEPLRRRASSASVPAVGASAEGTRRDRLGSY
SGPTSVSRQRVESLRKKRPLFPWFGLDIGGTLVKLVYFEPKDITAEEEEEEVESLKSIRKYLTSNVAYGSTGIRDVHLEL
KDLTLCGRKGNLHFIRFPTHDMPAFIQMGRDKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYID
SVGFNGRSQCYYFENPADSEKCQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFGLCCLLTGCTT
FEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEKREAVSKEDLARATLITITNNIGSIARMCAL
NENINQVVFVGNFLRINTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAVGALLELLKIP*

Gene Symbol:PANK2
Accession:NM_153638
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRLGPFHPRVHWAAPPSLSSGLHRLLFLRGTRIPSSTTLSPPRHDSLSLDGGTVNPPRVREPTGREAFGPSPASSDWLP
ARWRNGRGGRPRARLCSGWTAAEEARRNPTLGGLLGRQRLLLRMGGGRLGAPMERHGRASATSVSSAGEQAAGDPEGGRQ
EPLRRRASSASVPAVGASAEGTRRDRLGSYSGPTSVSRQRVESLRKKRPLFPWFGLDIGGTLVKLVYFEPKDITAEEEEE
EVESLKSIRKYLTSNVAYGSTGIRDVHLELKDLTLCGRKGNLHFIRFPTHDMPAFIQMGRDKNFSSLHTVFCATGGGAYK
FEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQCYYFENPADSEKCQKLPFDLKNPYPLLLVNIGSGVSILAVY
SKDNYKRVTGTSLGGGTFFGLCCLLTGCTTFEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEK
REAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAMRLLAYALDYWSKGQLKALFSEHEGYFGAV
GALLELLKIP*

Gene Symbol:PANK2
Accession:NM_001324192
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRLGPFHPRVHWAAPPSLSSGLHRLLFLRGTRIPSSTTLSPPRHDSLSLDGGTVNPPRVREPTGREAFGPSPASSDWLP
ARWRNGRGGRPRARLCSGWTAAEEARRNPTLGGLLGRQRLLLRMGGGRLGAPMERHGRASATSVSSAGEQAAGDPEGGRQ
EPLRRRASSASVPAVGASAEGTRRDRLGSYSGPTSVSRQRVESLRKKRPLFPWFGLDIGGTLVKLVYFEPKDITAEEEEE
EVESLKSIRKYLTSNVAYGSTGIRDVHLELKDLTLCGRKGNLHFIRFPTHDMPAFIQMGRDKNFSSLHTVFCATGGGAYK
FEQDFLTVCIF*

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

Gene Symbol:PANK2
Accession:NM_001324193
Location:INTRON

Gene Symbol:PANK2
Accession:NM_153640
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000690316 CLINVAR
dbSNP (RS) rs1416234460 CLINVAR
MedGen C0018523 CLINVAR
NCBI Gene LOC130065345 CLINVAR
  PANK2 CLINVAR
OMIM 234200 CLINVAR
  606157 CLINVAR
SNOMED CT 2992000 CLINVAR