NM_019055.6(ROBO4):c.569G>C (p.Gly190Ala)Rat Genome Database

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Variant : CV354194 (NM_019055.6(ROBO4):c.569G>C (p.Gly190Ala)) Homo sapiens

Symbol: CV354194
Name: NM_019055.6(ROBO4):c.569G>C (p.Gly190Ala)
RGD ID: 13506303
Condition: Congenital diaphragmatic hernia [RCV000577957]
Clinical Significance: risk factor
Last Evaluated: 11/09/2016
Review Status: no assertion criteria provided
Related Genes: ROBO4  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NC_000011.9:g.124766204C>G
NP_061928.4:p.Gly190Ala
NC_000011.10:g.124896308C>G
NM_001301088.2:c.134G>C
NM_019055.5:c.569G>C
NP_001288017.1:p.Gly45Ala
NM_019055.6:c.569G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh3811124,896,308 - 124,896,308CLINVAR
GRCh3711124,766,204 - 124,766,204CLINVAR
Cytogenetic Map1111q24.2CLINVAR
Trait Synonyms: Agenesis of hemidiaphragm; Congenital diaphragmatic defect; DIH; Unilateral agenesis of diaphragm



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Additional Information

Database Acc Id Source(s)
ClinVar RCV000577957 CLINVAR
dbSNP (RS) rs756636036 CLINVAR
MedGen C0235833 CLINVAR
NCBI Gene ROBO4 CLINVAR
OMIM 142340 CLINVAR
  607528 CLINVAR