RGD:13486653 Rat Genome Database

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Variant: RGD:13486653 -  Homo sapiens

RGD ID: 13486653
RS ID: rs55724435
ClinVar ID: CV458937
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 42,977,531
GRCh38 8 43,122,388
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.10:g.42977531C>T
NP_115613.1:p.Ile188=
NC_000008.11:g.43122388C>T
NG_033235.1:g.33883C>T
More... 		06/16/2021 synonymous variant likely benign Limb-girdle muscular dystrophy due to POMK deficiency; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED; none provided; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMK
Accession:NM_032237
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKQPQNSRRGLAPREVPPAVGLLLIMALMNTLLYLCLDHFFIAPRQSTVDPTHCPYGHFRIGQMKNCSPWLSCEELRTE
VRQLKRVGEGAVKRVFLSEWKEHKVALSQLTSLEMKDDFLHGLQMLKSLQGTHVVTLLGYCEDDNTMLTEYHPLGSLSNL
EETLNLSKYQNVNTWQHRLELAMDYVSIINYLHHSPVGTRVMCDSNDLPKTLSQYLLTSNFSILANDLDALPLVNHSSGM
LVKCGHRELHGDFVAPEQLWPYGEDVPFHDDLMPSYDEKIDIWKIPDISSFLLGHIEGSDMVRFHLFDIHKACKSQTPSE
RPTAQDVLETYQKVLDTLRDAMMSQAREML*

Gene Symbol:POMK
Accession:NM_001277971
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKQPQNSRRGLAPREVPPAVGLLLIMALMNTLLYLCLDHFFIAPRQSTVDPTHCPYGHFRIGQMKNCSPWLSCEELRTE
VRQLKRVGEGAVKRVFLSEWKEHKVALSQLTSLEMKDDFLHGLQMLKSLQGTHVVTLLGYCEDDNTMLTEYHPLGSLSNL
EETLNLSKYQNVNTWQHRLELAMDYVSIINYLHHSPVGTRVMCDSNDLPKTLSQYLLTSNFSILANDLDALPLVNHSSGM
LVKCGHRELHGDFVAPEQLWPYGEDVPFHDDLMPSYDEKIDIWKIPDISSFLLGHIEGSDMVRFHLFDIHKACKSQTPSE
RPTAQDVLETYQKVLDTLRDAMMSQAREML*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000531372 CLINVAR
  RCV001591277 CLINVAR
dbSNP (RS) rs55724435 CLINVAR
MedGen C3661900 CLINVAR
  C3808964 CLINVAR
NCBI Gene POMK CLINVAR
OMIM 615247 CLINVAR
  615249 CLINVAR
  616094 CLINVAR