Full data view for gene CNGB3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_019098.4 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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     
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline yes - - - - DNA SEQ - - retinal disease CHRO117 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline - - - - - DNA SEQ - - retinal disease CHRO26 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline - - - - - DNA SEQ - - retinal disease CHRO31 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline yes - - - - DNA SEQ - - retinal disease CHRO210 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline yes - - - - DNA SEQ - - retinal disease CHRO274 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline yes - - - - DNA SEQ - - retinal disease CHRO522 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline - - - - - DNA SEQ - - retinal disease CHRO915 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline yes - - - - DNA SEQ - - retinal disease CHRO1205 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline - - - - - DNA SEQ - - retinal disease CHRO1076 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline yes - - - - DNA SEQ - - retinal disease CHRO906 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline yes - - - - DNA SEQ - - retinal disease CHRO985 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline yes - - - - DNA SEQ - - retinal disease CHRO1097 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline yes - - - - DNA SEQ - - retinal disease CHRO771 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline yes - - - - DNA SEQ - - retinal disease CHRO667 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline - - - - - DNA SEQ - - retinal disease CHRO273 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline - - - - - DNA SEQ - - retinal disease CHRO658 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline yes - - - - DNA SEQ - - retinal disease CHRO983 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.[(1662_1663ins1663-1242_1663-1209,=)] p.[(Gly555Leufs*33,=)] Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 effect variant predicted form mini-gene splicing analysis in HEK293T cells PubMed: Weisschuh 2020 SCV000926194 - Germline - - - - - DNA SEQ - - retinal disease CHRO1138 PubMed: Weisschuh 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL0956-1 PubMed: Aweidah 2021 - - no Iraq;Turkey Jewish - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1029-1 PubMed: Aweidah 2021 - - yes Iraq Jewish - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1249-1 PubMed: Aweidah 2021 - - no Iraq;Spain;Yugoslavia Jewish-mixed - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1269-1 PubMed: Aweidah 2021 - - yes Iraq Jewish - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1548-1 PubMed: Aweidah 2021 family, 3 affected - yes Tunisia Jewish - - - - 3 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1548-2 PubMed: Aweidah 2021 - - yes Tunisia Jewish - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1548-3 PubMed: Aweidah 2021 - - yes Tunisia Jewish - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL0661-1 PubMed: Aweidah 2021 - - no Iraq;Romania;Poland Jewish-mixed - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL0831-1 PubMed: Aweidah 2021 family, 2 affected - no Tunisia;Turkey;Algeria Jewish-mixed - - - - 2 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL0831-3 PubMed: Aweidah 2021 - - no Tunisia;Turkey;Algeria Jewish-mixed - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1277-1 PubMed: Aweidah 2021 family, 2 affected - no Israel Jewish-Ashkenazi - - - - 2 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1277-2 PubMed: Aweidah 2021 - - no Israel Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1505-1 PubMed: Aweidah 2021 - - no Iraq;Austria Jewish-mixed - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1848-1 PubMed: Aweidah 2021 - - no Iraq;Morocco;Turkey Jewish-mixed - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1894-1 PubMed: Aweidah 2021 family, 2 affected - no Egypt;Iraq Jewish-mixed - - - - 2 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1894-2 PubMed: Aweidah 2021 - - no Egypt;Iraq Jewish-mixed - - - - 1 Johan den Dunnen
+/. - c.1663-1205G>A r.spl p.? Parent #2 - pathogenic (recessive) g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Aweidah 2021 - - Germline - - - - - DNA SEQ - - retinal disease MOL1954-1 PubMed: Aweidah 2021 - - no Yemen;Bulgaria;Ukraine Jewish-mixed - - - - 1 Johan den Dunnen
?/. 14i c.1663-1205G>A r.spl p.? Parent #2 ACMG VUS g.87617644C>T g.86605416C>T - - CNGB3_000159 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074699 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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