rs1568291639 Rat Genome Database

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Variant: rs1568291639 -  Homo sapiens

RGD ID: 151233526
RS ID: rs1568291639
ClinVar ID: CV1317112
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: CERS1  GDF1  
Reference Nucleotide: CGGGGGCG
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 19 18,981,027 - 18,981,035
GRCh38 19 18,870,218 - 18,870,226
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001387440.1:c.*353_*360del
NM_021267.5:c.*353_*360del
NM_001387438.1:c.84_91del
NM_001492.6:c.84_91del
More... 		09/15/2023 3 prime utr variant uncertain significance none provided

Gene Symbol:CERS1
Accession:NM_021267
Location:3UTRS;EXON

Gene Symbol:CERS1
Accession:NM_001387440
Location:3UTRS;EXON

Gene Symbol:GDF1
Accession:NM_001387438
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPPVMWRLFRRRDPQETRSGSRR
TSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPASAAGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPE
GGWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPAACARLAEASLLLVTL
DPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSFREVGWHRWVIAPRGFLANYCQGQCALPVALSGSGGPPALNHAVL
RALMHAAAPGAADLPCCVPARLSPISVLFFDNSDNVVLRQYEDMVVDECGCR*

Gene Symbol:GDF1
Accession:NM_001492
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPPVMWRLFRRRDPQETRSGSRR
TSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPASAAGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPE
GGWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPAACARLAEASLLLVTL
DPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSFREVGWHRWVIAPRGFLANYCQGQCALPVALSGSGGPPALNHAVL
RALMHAAAPGAADLPCCVPARLSPISVLFFDNSDNVVLRQYEDMVVDECGCR*

Gene Symbol:CERS1
Accession:NM_001387439
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387444
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387441
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001290265
Location:INTRON

Gene Symbol:CERS1
Accession:NM_198207
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387443
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387442
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387445
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV001786933 CLINVAR
dbSNP (RS) rs1568291639 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CERS1 CLINVAR
  GDF1 CLINVAR
OMIM 602880 CLINVAR
  606919 CLINVAR