rs904519303 Rat Genome Database

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Variant: rs904519303 -  Homo sapiens

RGD ID: 13622672
RS ID: rs904519303
ClinVar ID: CV532159
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA6  LOC127888935  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 19,751,944
GRCh38 18 22,171,983
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005257.5:c.839G>C
NC_000018.10:g.22171983G>C
NC_000018.9:g.19751944G>C
NP_005248.2:p.Gly280Ala
More... 		09/25/2020 missense variant uncertain significance Atrial septal defect 9; Atrioventricular septal defect 5; Conotruncal cardiac defects; Fallot tetralogy; HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; none provided; Pancreatic agenesis and congenital heart disease; PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Tetralogy of Fallot
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GATA6
Accession:NM_005257
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALTDGGWCLPKRFGAAGADASDSRAFPAREPSTPPSPISSSSSSCSRGGERGPGGASNCGTPQLDTEAAAGPPARSLLL
SSYASHPFGAPHGPSAPGVAGPGGNLSSWEDLLLFTDLDQAATASKLLWSSRGAKLSPFAPEQPEEMYQTLAALSSQGPA
AYDGAPGGFVHSAAAAAAAAAAASSPVYVPTTRVGSMLPGLPYHLQGSGSGPANHAGGAGAHPGWPQASADSPPYGSGGG
AAGGGAAGPGGAGSAAAHVSARFPYSPSPPMANGAAREPAGYAAAGSGGAGGVSGGGSSLAAMGGREPQYSSLSAARPLN
GTYHHHHHHHHHHPSPYSPYVGAPLTPAWPAGPFETPVLHSLQSRAGAPLPVPRGPSADLLEDLSESRECVNCGSIQTPL
WRRDGTGHYLCNACGLYSKMNGLSRPLIKPQKRVPSSRRLGLSCANCHTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRP
LAMKKEGIQTRKRKPKNINKSKTCSGNSNNSIPMTPTSTSSNSDDCSKNTSPTTQPTASGAGAPVMTGAGESTNPENSEL
KYSGQDGLYIGVSLASPAEVTSSVRPDSWCALALA*

Gene Symbol:GATA6
Accession:XM_047437483
Location:EXON
Amino Acid Prediction: G to A (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALTDGGWCLPKRFGAAGADASDSRAFPAREPSTPPSPISSSSSSCSRGGERGPGGASNCGTPQLDTEAAAGPPARSLLL
SSYASHPFGAPHGPSAPGVAGPGGNLSSWEDLLLFTDLDQAATASKLLWSSRGAKLSPFAPEQPEEMYQTLAALSSQGPA
AYDGAPGGFVHSAAAAAAAAAAASSPVYVPTTRVGSMLPGLPYHLQGSGSGPANHAGGAGAHPGWPQASADSPPYGSGGG
AAGGGAAGPGGAGSAAAHVSARFPYSPSPPMANGAAREPAGYAAAGSGGAGGVSGGGSSLAAMGGREPQYSSLSAARPLN
GTYHHHHHHHHHHPSPYSPYVGAPLTPAWPAGPFETPVLHSLQSRAGAPLPVPRGPSADLLEDLSESRECVNCGSIQTPL
WRRDGTGHYLCNACGLYSKMNGLSRPLIKPQKRVPSSRRLGLSCANCHTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRP
LAMKKEGIQTRKRKPKNINKSKTCSGNSNNSIPMTPTSTSSNSDDCSKNTSPTTQPTASGAGAPVMTGAGESTNPENSEL
KYSGQDGLYIGVSLASPAEVTSSVRPDSWCALALA*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000650071 CLINVAR
  RCV000765403 CLINVAR
  RCV003325508 CLINVAR
dbSNP (RS) rs904519303 CLINVAR
MedGen C1857586 CLINVAR
  C3280939 CLINVAR
  C3661900 CLINVAR
NCBI Gene GATA6 CLINVAR
OMIM 187500 CLINVAR
  217095 CLINVAR
  600001 CLINVAR
  601656 CLINVAR
  614474 CLINVAR
  614475 CLINVAR
SNOMED CT 86299006 CLINVAR