RGD:9683450 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:9683450 -  Homo sapiens

RGD ID: 9683450
RS ID: rs587784285
ClinVar ID: CV169336
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAFAH1B1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 2,568,705
GRCh38 17 2,665,411
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_009799.1:g.76783T>G
NC_000017.11:g.2665411T>G
NC_000017.10:g.2568705T>G
NP_000421.1:p.Tyr24Ter
More...
02/08/2013 nonsense pathogenic classic lissencephaly is rare. birth prevalence is estimated to range from 11.7 per million births to 40 per million births Isolated Lissencephaly Sequence
Disease Annotations     Click to see Annotation Detail View
lissencephaly  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PAFAH1B1
Accession:XM_047436164
Location:5UTRS;INTRON

Gene Symbol:PAFAH1B1
Accession:NM_000430
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSQRQRDELNRAIADYLRSNG*EEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFT
SGGPLGQKRDPKEWIPRPPEKYALSGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDH
SGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAIMPNGDHIVSASRDKTIKMWEVQTGYCVKTFTGHREWVRMV
RPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSETKKSGKPGPFLLSGSRDKTI
KMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHFVTSLDFHKTAPYVVTGSV
DQTVKVWECR*

Gene Symbol:PAFAH1B1
Accession:XM_011523901
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSQRQRDELDWFQRGEDSILNKADEARNRAIADYLRSNG*EEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQ
KKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPEKYALSGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDF
ERTLKGHTDSVQDISFDHSGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAIMPNGDHIVSASRDKTIKMWEVQ
TGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSETK
KSGKPGPFLLSGSRDKTIKMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHF
VTSLDFHKTAPYVVTGSVDQTVKVWECR*

Gene Symbol:PAFAH1B1
Accession:XM_011523902
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSQRQRDELDWFQRGEDSILNKADEARNRAIADYLRSNG*EEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQ
KKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPEKYALSGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDF
ERTLKGHTDSVQDISFDHSGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAIMPNGDHIVSASRDKTIKMWEVQ
TGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSETK
KSGKPGPFLLSGSRDKTIKMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHF
VTSLDFHKTAPYVVTGSVDQTVKVWECR*

Gene Symbol:PAFAH1B1
Accession:XM_011523903
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSQRQRDELDWFQRGEDSILNKADEARNRAIADYLRSNG*EEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQ
KKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPEKYALSGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDF
ERTLKGHTDSVQDISFDHSGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAIMPNGDHIVSASRDKTIKMWEVQ
TGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSETK
KSGKPGPFLLSGSRDKTIKMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHF
VTSLDFHKTAPYVVTGSVDQTVKVWECR*

Gene Symbol:PAFAH1B1
Accession:XM_017024701
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSQRQRDELNRAIADYLRSNG*EEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFT
SGGPLGQKRDPKEWIPRPPEKYALSGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDH
SGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAIMPNGDHIVSASRDKTIKMWEVQTGYCVKTFTGHREWVRMV
RPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSETKKSGKPGPFLLSGSRDKTI
KMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHFVTSLDFHKTAPYVVTGSV
DQTVKVWECR*

Gene Symbol:PAFAH1B1
Accession:XM_047436163
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSQRQRDELNRAIADYLRSNG*EEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFT
SGGPLGQKRDPKEWIPRPPEKYALSGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDH
SGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAIMPNGDHIVSASRDKTIKMWEVQTGYCVKTFTGHREWVRMV
RPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSETKKSGKPGPFLLSGSRDKTI
KMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHFVTSLDFHKTAPYVVTGSV
DQTVKVWECR*

Gene Symbol:PAFAH1B1
Accession:XM_047436162
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLSQRQRDELNRAIADYLRSNG*EEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFT
SGGPLGQKRDPKEWIPRPPEKYALSGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDH
SGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAIMPNGDHIVSASRDKTIKMWEVQTGYCVKTFTGHREWVRMV
RPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSETKKSGKPGPFLLSGSRDKTI
KMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHFVTSLDFHKTAPYVVTGSV
DQTVKVWECR*

Gene Symbol:PAFAH1B1
Accession:XM_017024703
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000147059 CLINVAR
dbSNP (RS) rs587784285 CLINVAR
MedGen C4749301 CLINVAR
NCBI Gene PAFAH1B1 CLINVAR
OMIM 601545 CLINVAR
  607432 CLINVAR