Full data view for gene KIAA1432

NOTE: gene name changed from KIAA1432 to RIC1
Information The variants shown are described using the NM_020829.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ID_report     

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Owner     
+?/. - c-191_(252+1_252+10000){0} r.0? p.0? Unknown - likely pathogenic g.(5626033_5629119)_(5656691_5666690)del g.(5626033_5629119)_(5656691_5666690)del - - KIAA1432_000007 variant estimated from figure; reported as gene involved in cleft lip with/without cleft palate PubMed: Lansdon 2023, Journal: Lansdon 2023 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - cleft RIC1-Pat1 PubMed: Lansdon 2023, Journal: Lansdon 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c-191_(252+1_252+10000){0} r.0? p.0? Unknown - likely pathogenic g.(5626033_5629119)_(5656691_5666690)del g.(5626033_5629119)_(5656691_5666690)del - - KIAA1432_000007 variant estimated from figure; reported as gene involved in cleft lip with/without cleft palate PubMed: Lansdon 2023, Journal: Lansdon 2023 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - cleft RIC1-Pat2 PubMed: Lansdon 2023, Journal: Lansdon 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c-191_(252+1_252+10000){0} r.0? p.0? Unknown - likely pathogenic g.(5626033_5629119)_(5656691_5666690)del g.(5626033_5629119)_(5656691_5666690)del - - KIAA1432_000007 variant estimated from figure; reported as gene involved in cleft lip with/without cleft palate PubMed: Lansdon 2023, Journal: Lansdon 2023 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - cleft RIC1-Pat3 PubMed: Lansdon 2023, Journal: Lansdon 2023 - - - - - - - - - 1 Johan den Dunnen
+/. - c.-5425206_*2424753del r.0? p.0? Unknown - pathogenic g.204104_8198999del g.204104_8198999del - - GLDC_000111 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/. - c.435C>G r.(?) p.(Ile145Met) Unknown - VUS g.5713998C>G - KIAA1432(NM_001135920.2):c.435C>G (p.(Ile145Met)) - KIAA1432_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.901+27_901+28del r.(=) p.(=) Unknown - likely benign g.5738565_5738566del g.5738565_5738566del KIAA1432(NM_001135920.2):c.901+8_901+9del (p.(=)) - KIAA1432_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2068C>A r.(?) p.(Gln690Lys) Unknown - likely benign g.5762616C>A - RIC1(NM_020829.4):c.2068C>A (p.Q690K) - KIAA1432_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2951C>T r.(?) p.(Ala984Val) Maternal (confirmed) - VUS g.5765523C>T g.5765523C>T - - KIAA1432_000006 - PubMed: Fell 2022, Journal: Fell 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - wes NDD Pat2 PubMed: Fell 2022, Journal: Fell 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
+?/. - c.2951C>T r.(?) p.(Ala984Val) Maternal (confirmed) - VUS g.5765523C>T g.5765523C>T - - KIAA1432_000006 - PubMed: Fell 2022, Journal: Fell 2022 - - Uniparental disomy, maternal allele - - - - - DNA SEQ, SEQ-NG - wes NDD Pat2 PubMed: Fell 2022, Journal: Fell 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 1 Johan den Dunnen
?/. - c.3202C>T r.(?) p.(Arg1068Trp) Unknown - VUS g.5769034C>T - RIC1(NM_020829.4):c.3202C>T (p.(Arg1068Trp)) - KIAA1432_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3431A>G r.(?) p.(Glu1144Gly) Unknown - VUS g.5770093A>G - RIC1(NM_020829.4):c.3431A>G (p.(Glu1144Gly)) - KIAA1432_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3794G>C r.(?) p.(Arg1265Pro) Both (homozygous) - likely pathogenic (recessive) g.5772741G>C g.5772741G>C - - KIAA1432_000008 variant in a novel candidate gene PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 07DG-0035/10DG1320 PubMed: Patel 2017 5-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives - - - - - - - - 2 Johan den Dunnen
+?/. - c.3794G>C r.(?) p.(Arg1265Pro) Both (homozygous) - likely pathogenic (recessive) g.5772741G>C g.5772741G>C - - KIAA1432_000008 variant in a novel candidate gene PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 15DG2427 PubMed: Patel 2017 4-generation family, 3 affected broothers, unaffected heterozygous parents/relatives M - - - - - - - 3 Johan den Dunnen
?/. - c.3824G>A r.(?) p.(Gly1275Glu) Unknown - VUS g.5772921G>A g.5772921G>A - - KIAA1432_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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