Full data view for gene ANO5

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_213599.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
Legend  

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     
?/. 20 c.2387C>T r.(?) p.(Ser796Leu) Parent #1 - VUS g.22296266C>T g.22274720C>T S796L - ANO5_000053 - Fichna ESHG2016 P10.20 - - Germline - 1/82 cases LGMD - 0 - DNA SEQ, SEQ-NG - - GDD - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - 1 Johan den Dunnen
+/. 20 c.2387C>T r.(?) p.(Ser796Leu) Parent #2 - pathogenic g.22296266C>T g.22274720C>T - - ANO5_000053 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 20 c.2387C>T r.(?) p.(Ser796Leu) Parent #2 - pathogenic g.22296266C>T g.22274720C>T - - ANO5_000053 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Sarkozy 2012 - M - France - - 0 - - 1 Johan den Dunnen
-?/. - c.2387C>T r.(?) p.(Ser796Leu) Unknown - likely benign g.22296266C>T g.22274720C>T ANO5(NM_001142649.1):c.2384C>T (p.(Ser795Leu)), ANO5(NM_213599.2):c.2387C>T (p.S796L) - ANO5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2387C>T r.(?) p.(Ser796Leu) Unknown - likely benign g.22296266C>T g.22274720C>T ANO5(NM_001142649.1):c.2384C>T (p.(Ser795Leu)), ANO5(NM_213599.2):c.2387C>T (p.S796L) - ANO5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2387C>T r.(?) p.(Ser796Leu) Unknown - VUS g.22296266C>T g.22274720C>T ANO5(NM_001142649.1):c.2384C>T (p.(Ser795Leu)), ANO5(NM_213599.2):c.2387C>T (p.S796L) - ANO5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2387C>T r.(?) p.(Ser796Leu) Unknown - benign g.22296266C>T g.22274720C>T ANO5(NM_001142649.1):c.2384C>T (p.(Ser795Leu)), ANO5(NM_213599.2):c.2387C>T (p.S796L) - ANO5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2387C>T r.(?) p.(Ser796Leu) Unknown - likely benign g.22296266C>T g.22274720C>T ANO5(NM_001142649.1):c.2384C>T (p.(Ser795Leu)), ANO5(NM_213599.2):c.2387C>T (p.S796L) - ANO5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2387C>T r.(?) p.(Ser796Leu) Parent #1 - likely benign g.22296266C>T g.22274720C>T - - ANO5_000053 31 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs61910685 Germline - 31/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 31 Mohammed Faruq
Legend