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.

12 entries on 1 page. Showing entries 1 - 12.
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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.155A>G r.(?) p.(Asn52Ser) Parent #1 - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) Parent #1 - pathogenic g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Sarkozy 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) Parent #2 - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Wahbi 2012 - F - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) Parent #2 - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - F - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) Parent #2 - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - F - France - - 0 - - 1 Johan den Dunnen
-?/. - c.155A>G r.(?) p.(Asn52Ser) Unknown - likely benign g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.155A>G r.(?) p.(Asn52Ser) Parent #1 - VUS g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.155A>G r.(?) p.(Asn52Ser) Unknown - likely benign g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155A>G r.(?) p.(Asn52Ser) Unknown - VUS g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155A>G r.(?) p.(Asn52Ser) Parent #1 - VUS g.22239808A>G g.22218262A>G - - ANO5_000048 conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143777403 Germline - 6/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
+/. - c.155A>G r.(?) p.(Asn52Ser) Parent #1 - pathogenic (recessive) g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Ten Dam 2019 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. - c.155A>G r.(?) p.(Asn52Ser) Parent #1 - pathogenic (recessive) g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Ten Dam 2019 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
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