RGD:38597068 Rat Genome Database

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Variant: RGD:38597068 -  Homo sapiens

RGD ID: 38597068
RS ID: rs780411924
ClinVar ID: CV801862
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADD3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 111,886,260
GRCh38 10 110,126,502
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_019903.5:c.1607C>T
NM_001121.4:c.1607C>T
NP_063968.1:p.Ser536Phe
NP_001307521.1:p.Ser536Phe
More... 		missense variant uncertain significance Microcephaly (disease)
Disease Annotations     Click to see Annotation Detail View
microcephaly  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Microcephaly  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:ADD3
Accession:XM_024447800
Location:EXON

Gene Symbol:ADD3
Accession:NM_019903
Location:EXON

Gene Symbol:ADD3
Accession:XM_024447807
Location:EXON

Gene Symbol:ADD3
Accession:XM_024447794
Location:EXON

Gene Symbol:ADD3
Accession:XM_047424589
Location:EXON

Gene Symbol:ADD3
Accession:NM_001320591
Location:EXON

Gene Symbol:ADD3
Accession:XM_024447799
Location:EXON

Gene Symbol:ADD3
Accession:XM_024447803
Location:EXON

Gene Symbol:ADD3
Accession:NM_001320593
Location:EXON

Gene Symbol:ADD3
Accession:XM_024447796
Location:EXON

Gene Symbol:ADD3
Accession:XM_047424588
Location:EXON

Gene Symbol:ADD3
Accession:XM_047424595
Location:EXON

Gene Symbol:ADD3
Accession:XM_024447801
Location:EXON

Gene Symbol:ADD3
Accession:XM_047424592
Location:EXON

Gene Symbol:ADD3
Accession:XM_024447806
Location:EXON

Gene Symbol:ADD3
Accession:XM_024447804
Location:EXON

Gene Symbol:ADD3
Accession:XM_024447802
Location:EXON

Gene Symbol:ADD3
Accession:XM_047424587
Location:EXON

Gene Symbol:ADD3
Accession:NM_001121
Location:EXON

Gene Symbol:ADD3
Accession:XM_047424593
Location:EXON

Gene Symbol:ADD3
Accession:NM_001320594
Location:EXON

Gene Symbol:ADD3
Accession:XM_024447797
Location:EXON

Gene Symbol:ADD3
Accession:XM_024447798
Location:EXON

Gene Symbol:ADD3
Accession:NM_001320592
Location:EXON

Gene Symbol:ADD3
Accession:XM_024447795
Location:EXON

Gene Symbol:ADD3
Accession:NM_016824
Location:EXON

Gene Symbol:ADD3
Accession:XM_047424594
Location:EXON

Gene Symbol:ADD3
Accession:XM_024447805
Location:EXON

Gene Symbol:ADD3
Accession:XM_047424590
Location:EXON

Gene Symbol:ADD3
Accession:XM_047424591
Location:EXON

Gene Symbol:ADD3
Accession:XM_047424597
Location:EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001252887 CLINVAR
dbSNP (RS) rs780411924 CLINVAR
MedGen C4551563 CLINVAR
NCBI Gene ADD3 CLINVAR
OMIM 601568 CLINVAR