268000.G.10

Country

Saudi Arabia

HPO Terms

Rod-cone dystrophy; Decreased circulating antibody concentration

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Sex

Unknown

Family History

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018163.3:c.681G>A	4		Retinitis Pigmentosa

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Remarks

2 siblings. While the variant is predicted to result in a synonymous change, it affects the last base pair of exon 9, making it likely that it affects splicing by abolishing the donor site. "RT-PCR using RNA extracted from lymphoblastoid cells from these two siblings confirmed the skipping of exon 9".

References

Patel et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Remarks
268000.G.1	Saudi Arabia	Rod-cone dystrophy	Unknown	Yes	Family with unknown number of affected members
268000.G.2	Saudi Arabia	Rod-cone dystrophy	Unknown	Yes	Family with unknown number of affected members
268000.G.3	Saudi Arabia	Retinal dystrophy	Unknown	Yes	Family with unknown number of affected members
268000.G.4	Saudi Arabia	Retinal dystrophy	Unknown	Yes	Family with unknown number of affected members
268000.G.5	Saudi Arabia	Rod-cone dystrophy	Unknown	Yes	Family with unknown number of affected members
268000.G.6	Saudi Arabia	Rod-cone dystrophy	Unknown	No	Family with unknown number of affected members
268000.G.7	Saudi Arabia	Rod-cone dystrophy	Unknown	No	Family with unknown number of affected members
268000.G.8	Saudi Arabia	Rod-cone dystrophy	Unknown	No	Family with unknown number of affected members
268000.G.9	Saudi Arabia	Rod-cone dystrophy	Unknown	No	Group of 4 family members