RGD:15193080 Rat Genome Database

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Variant: RGD:15193080 -  Homo sapiens

RGD ID: 15193080
RS ID: rs147680806
ClinVar ID: CV736685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 42,958,913
GRCh38 8 43,103,770
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001277971.2:c.222C>T
NM_032237.5:c.222C>T
NM_032237.4:c.222C>T
NG_033235.1:g.15265C>T
More... 		02/27/2019 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; 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_001277971
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKQPQNSRRGLAPREVPPAVGLLLIMALMNTLLYLCLDHFFIAPRQSTVDPTHCPYGHFRIGQMKNCSPWLSCEELRTE
VRQLKRVGEGAVKRVFLSEWKEHKVALSQLTSLEMKDDFLHGLQMLKSLQGTHVVTLLGYCEDDNTMLTEYHPLGSLSNL
EETLNLSKYQNVNTWQHRLELAMDYVSIINYLHHSPVGTRVMCDSNDLPKTLSQYLLTSNFSILANDLDALPLVNHSSGM
LVKCGHRELHGDFVAPEQLWPYGEDVPFHDDLMPSYDEKIDIWKIPDISSFLLGHIEGSDMVRFHLFDIHKACKSQTPSE
RPTAQDVLETYQKVLDTLRDAMMSQAREML*

Gene Symbol:POMK
Accession:NM_032237
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 74
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 RCV000910737 CLINVAR
dbSNP (RS) rs147680806 CLINVAR
MedGen C3808964 CLINVAR
NCBI Gene POMK CLINVAR
OMIM 615247 CLINVAR
  615249 CLINVAR
  616094 CLINVAR