RGD:156200706 Rat Genome Database

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Variant: RGD:156200706 -  Homo sapiens

RGD ID: 156200706
ClinVar ID: CV2290491
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CERS1  GDF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 18,979,509
GRCh38 19 18,868,700
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_021267.5:c.*1285C>T
NM_001387440.1:c.*1877C>T
NM_001387438.1:c.1016C>T
NM_001492.6:c.1016C>T
More... 		08/08/2022 3 prime utr variant uncertain significance AllHighlyPenetrant

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

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

Gene Symbol:GDF1
Accession:NM_001387438
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 339
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPPVMWRLFRRRDPQETRSGSRR
TSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPASAAGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPE
GGWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPAACARLAEASLLLVTL
DPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSFREVGWHRWVIAPRGFLANYCQGQCALPVALSGSGGPPALNHAVL
RALMHAAAPGAADLPCCVHARLSPISVLFFDNSDNVVLRQYEDMVVDECGCR*

Gene Symbol:GDF1
Accession:NM_001492
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 339
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPPVMWRLFRRRDPQETRSGSRR
TSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPASAAGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPE
GGWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPAACARLAEASLLLVTL
DPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSFREVGWHRWVIAPRGFLANYCQGQCALPVALSGSGGPPALNHAVL
RALMHAAAPGAADLPCCVHARLSPISVLFFDNSDNVVLRQYEDMVVDECGCR*

Gene Symbol:CERS1
Accession:NM_001387443
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387439
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387445
Location:INTRON

Gene Symbol:CERS1
Accession:NM_198207
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387442
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

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Database
Acc Id
Source(s)
ClinVar RCV004155185 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CERS1 CLINVAR
  GDF1 CLINVAR
OMIM 602880 CLINVAR
  606919 CLINVAR