Unique variants in the SLC34A2 gene

Information The variants shown are described using the NM_006424.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.112+10G>A r.(=) p.(=) - benign g.25664244G>A g.25662622G>A SLC34A2(NM_001177999.1):c.112+10G>A - SLC34A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.251-7C>A r.(=) p.(=) - VUS g.25665817C>A - SLC34A2(NM_001177999.1):c.248-7C>A - SLC34A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.379+15G>C r.(=) p.(=) - likely benign g.25665967G>C g.25664345G>C SLC34A2(NM_001177999.1):c.376+15G>C - SLC34A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.380-3C>T r.spl? p.? - likely benign g.25667747C>T - SLC34A2(NM_001177999.1):c.377-3C>T - SLC34A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.552T>C r.(=) p.(=) - benign g.25669530T>C g.25667908T>C - - SLC34A2_000009 1 homozygous; Clinindb (India), 48 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77319279 Germline - 1/2795 individuals, 48/2795 individuals - - - Mohammed Faruq
+/. 1 - c.1226_1227dup r.(?) p.(Pro410PhefsTer6) - pathogenic g.25675927_25675928dup - SLC34A2(NM_001177999.1):c.1223_1224dupTT (p.P409Ffs*6) - SLC34A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.1901= r.(=) p.(Gly634=) - benign g.25678199A>G g.25676577A>G SLC34A2(NM_001177999.1):c.1898A>G (p.D633G), SLC34A2(NM_001177999.2):c.1898A>G (p.D633G) - SLC34A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
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