Unique variants in gene SRCIN1

Information The variants shown are described using the NM_025248.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.129C>A r.(?) p.(Arg43=) - likely benign g.36734938G>T g.38578685G>T SRCIN1(NM_025248.3):c.129C>A (p.R43=) - SRCIN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2226G>T r.(?) p.(Lys742Asn) - VUS g.36709067C>A g.38552831C>A SRCIN1(NM_025248.3):c.2226G>T (p.K742N) - SRCIN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2266G>A r.(?) p.(Gly756Ser) - VUS g.36709027C>T g.38552791C>T SRCIN1(NM_025248.3):c.2266G>A (p.G756S) - SRCIN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2308G>A r.(?) p.(Gly770Arg) - VUS g.36708985C>T g.38552749C>T SRCIN1(NM_025248.3):c.2308G>A (p.G770R) - SRCIN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2737C>G r.(?) p.(Arg913Gly) - likely benign g.36707616G>C g.38551380G>C SRCIN1(NM_025248.2):c.2737C>G (p.(Arg913Gly)) - SRCIN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2808G>A r.(?) p.(Glu936=) - likely benign g.36707545C>T g.38551309C>T SRCIN1(NM_025248.3):c.2808G>A (p.E936=) - SRCIN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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