Unique variants in the PITPNM2 gene

Information The variants shown are described using the NM_020845.2 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.2698G>A r.(?) p.(Ala900Thr) - likely benign g.123474367C>T - PITPNM2(NM_020845.2):c.2698G>A (p.A900T) - PITPNM2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3907G>T r.(?) p.(Gly1303Trp) - VUS g.123470717C>A g.122986170C>A PITPNM2(NM_020845.2):c.3907G>T (p.(Gly1303Trp)) - PITPNM2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*5324C>T r.(=) p.(=) - likely benign g.123465250G>A - ARL6IP4(NM_001002252.2):c.499G>A (p.E167K) - ARL6IP4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*5808C>T r.(=) p.(=) - likely benign g.123464766G>A - ARL6IP4(NM_001002252.2):c.15G>A (p.T5=) - OGFOD2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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