Unique variants in the NCOA5 gene

Information The variants shown are described using the NM_020967.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.*5078T>C r.(=) p.(=) - likely benign g.44685861A>G g.46057222A>G SLC12A5(NM_001134771.1):c.3247A>G (p.(Ile1083Val)) - NCOA5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*5841_*5843del r.(=) p.(=) - VUS g.44685097_44685099del - SLC12A5(NM_020708.4):c.3004_3006delGAG (p.(Glu1002del)) - NCOA5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*5913C>T r.(=) p.(=) - likely benign g.44685026G>A - SLC12A5(NM_020708.4):c.2933G>A (p.(Ser978Asn)) - NCOA5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.*6083C>T r.(=) p.(=) - likely benign g.44684856G>A g.46056217G>A SLC12A5(NM_020708.4):c.2855G>A (p.(Arg952His)), SLC12A5(NM_020708.5):c.2855G>A (p.R952H) - NCOA5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
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