Full data view for gene RLBP1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000326.4 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 First loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 First loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Second loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Second loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Second loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-003 - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-004 - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-004 - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-006 - yes - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-006 - yes - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-006 - yes - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Both (homozygous) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-006 - yes - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Paternal (confirmed) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Thrid loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Paternal (confirmed) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Thrid loop of NF-001, no consanguinity - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Maternal (confirmed) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Firth loop of NF-001, consanguinity (despite this, compound heterozygosity) - yes - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Maternal (confirmed) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-005 - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Maternal (confirmed) - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-005 - no - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Parent #2 - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-008 - yes - - - - - - 1 LOVD
+?/. 4 c.141G>A r.(?) p.[Lys47=;?] Parent #2 - likely pathogenic g.89761796C>T g.89218565C>T 324G>A - RLBP1_000074 annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous PubMed: Eichers 2002 - rs766278489 Germline yes - - - - DNA STR, SEQ - - retinal disease - PubMed: Eichers 2002 Family NF-008 - yes - - - - - - 1 LOVD
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