All variants in the CD300LF gene

Information The variants shown are described using the NM_139018.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

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     
-?/. - c.-36412G>A r.(?) p.(=) - likely benign g.72745417C>T - SLC9A3R1(NM_004252.5):c.432C>T (p.H144=) - CD300LF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-36308G>C r.(?) p.(=) - benign g.72745313C>G g.74749174C>G SLC9A3R1(NM_004252.5):c.328C>G (p.L110V) - SLC9A3R1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-36308G>C r.(?) p.(=) - benign g.72745313C>G g.74749174C>G SLC9A3R1(NM_004252.5):c.328C>G (p.L110V) - SLC9A3R1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-36308G>C r.(?) p.(=) - likely benign g.72745313C>G g.74749174C>G SLC9A3R1(NM_004252.5):c.328C>G (p.L110V) - SLC9A3R1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-36109C>A r.(?) p.(=) - VUS g.72745114G>T - SLC9A3R1(NM_004252.5):c.129G>T (p.E43D) - CD300LF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-36108T>G r.(?) p.(=) - VUS g.72745113A>C - SLC9A3R1(NM_004252.5):c.128A>C (p.E43A) - SLC9A3R1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-35906C>T r.(?) p.(=) - benign g.72744911G>A g.74748772G>A SLC9A3R1(NM_004252.5):c.-75G>A - SLC9A3R1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.-32454C>T r.(?) p.(=) - VUS g.72741459G>A g.74745320G>A RAB37(NM_001006638.2):c.581G>A (p.(Arg194Gln)) - RAB37_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-29390G>A r.(?) p.(=) - VUS g.72738395C>T g.74742256C>T RAB37(NM_001006638.2):c.207C>T (p.(=)) - RAB37_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-27977C>T r.(?) p.(=) - VUS g.72736982G>A g.74740843G>A RAB37(NM_001006638.2):c.169G>A (p.(Gly57Arg)) - RAB37_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-27902C>T r.(?) p.(=) - VUS g.72736907G>A g.74740768G>A RAB37(NM_001006638.2):c.94G>A (p.(Val32Met)) - RAB37_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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