RGD:8568449 Rat Genome Database

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Variant: RGD:8568449 -  Homo sapiens

RGD ID: 8568449
RS ID: rs281875376
ClinVar ID: CV39543
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZMPSTE24  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 40,758,262
GRCh38 1 40,292,590
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_212:g.39530G>A
NG_008695.1:g.39530G>A
NC_000001.11:g.40292590G>A
NC_000001.10:g.40758262G>A
More... 		04/21/2015 nonsense|stop-gain pathogenic|not provided neonatal/infancy <1 / 1 000 000 Lipodystrophy, type B, associated with mandibuloacral dysplasia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZMPSTE24
Accession:XM_047427582
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRQLDELILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTLGFF
MKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEVMAK
SIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGMEPRNEEEGNSEEIKAKVKNKKQG
CKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYNEVL
SFCLTVLSRRFEFQADAFAKKLGKAKDLYSALIKLNKDNLGFPVSD*LFSMWHYSHPPLLERLQALKTMKQH*

Gene Symbol:ZMPSTE24
Accession:NM_005857
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 450
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGMWASLDALWEMPAEKRIFGAVLLFSWTVYLWETFLAQRQRRIYKTTTHVPPELGQIMDSETFEKSRLYQLDKSTFSFW
SGLYSETEGTLILLFGGIPYLWRLSGRFCGYAGFGPEYEITQSLVFLLLATLFSALTGLPWSLYNTFVIEEKHGFNQQTL
GFFMKDAIKKFVVTQCILLPVSSLLLYIIKIGGDYFFIYAWLFTLVVSLVLVTIYADYIAPLFDKFTPLPEGKLKEEIEV
MAKSIDFPLTKVYVVEGSKRSSHSNAYFYGFFKNKRIVLFDTLLEEYSVLNKDIQEDSGMEPRNEEEGNSEEIKAKVKNK
KQGCKNEEVLAVLGHELGHWKLGHTVKNIIISQMNSFLCFFLFAVLIGRKELFAAFGFYDSQPTLIGLLIIFQFIFSPYN
EVLSFCLTVLSRRFEFQADAFAKKLGKAKDLYSALIKLNKDNLGFPVSD*LFSMWHYSHPPLLERLQALKTMKQH*

Gene Symbol:ZMPSTE24
Accession:XM_047427590
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:20814950  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000023550 CLINVAR
  RCV000128732 CLINVAR
dbSNP (RS) rs281875376 CLINVAR
MedGen C1837756 CLINVAR
  CN517202 CLINVAR
NCBI Gene ZMPSTE24 CLINVAR
OMIM 606480 CLINVAR
  608612 CLINVAR
OMIM Allele 606480.0009 CLINVAR