Unique variants in the ARSF gene

Information The variants shown are described using the NM_001201538.1 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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     
?/. 2 - c.-28-1161del r.(=) p.(=) - VUS g.2984953del g.3066912del - - ARSF_000013 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-28-1145dup r.(=) p.(=) - VUS g.2984969dup g.3066928dup - - ARSF_000003 - - - - Germline - - - - - Yu Sun
?/. 2 - c.-28-53del r.(=) p.(=) - VUS g.2986061del g.3068020del - - ARSF_000011 - - - - Germline - - - - - Yu Sun
?/. 1 - c.18C>G r.(=) p.(=) - VUS g.2990073C>G g.3072032C>G P6P - ARSF_000019 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
?/. 2 - c.175G>C r.(?) p.(Asp59His) - VUS g.2994602G>C g.3076561G>C ARSF(NM_001201539.1):c.175G>C (p.D59H) - ARSF_000020 recurrent, found 74 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 74/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
?/. 1 - c.178C>T r.(?) p.(Arg60Cys) - VUS g.2994605C>T g.3076564C>T - - ARSF_000021 recurrent, found 73 times PubMed: Tarpey 2009 - - Germline - 73/208 cases - - - Lucy Raymond
?/. 1 - c.223G>A r.(?) p.(Ala75Thr) - VUS g.2994650G>A g.3076609G>A - - ARSF_000022 recurrent, found 74 times PubMed: Tarpey 2009 - - Germline - 74/208 cases - - - Lucy Raymond
?/. 1 - c.229C>A r.(?) p.(Leu77Ile) - VUS g.2994656C>A g.3076615C>A - - ARSF_000023 recurrent, found 76 times PubMed: Tarpey 2009 - - Germline - 76/208 cases - - - Lucy Raymond
?/. 1 - c.244C>T r.(?) p.(Arg82Trp) - VUS g.2994671C>T g.3076630C>T - - ARSF_000024 recurrent, found 77 times PubMed: Tarpey 2009 - - Germline - 77/208 cases - - - Lucy Raymond
?/. 1 - c.251C>T r.(?) p.(Ala84Val) - VUS g.2994678C>T g.3076637C>T - - ARSF_000025 recurrent, found 77 times PubMed: Tarpey 2009 - - Germline - 77/208 cases - - - Lucy Raymond
-?/. 1 - c.261G>C r.(?) p.(Thr87=) - likely benign g.2994688G>C - ARSF(NM_001201539.1):c.261G>C (p.T87=) - ARSF_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.273C>G r.(=) p.(=) - VUS g.2994700C>G g.3076659C>G P91P - ARSF_000026 recurrent, found 71 times PubMed: Tarpey 2009 - - Germline - 71/208 cases - - - Lucy Raymond
?/. 1 - c.284-239G>A r.(=) p.(=) - VUS g.2998693G>A g.3080652G>A - - ARSF_000007 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.363del r.(?) p.(Ala122GlnfsTer4) - likely benign g.2999011del - ARSF(NM_001201538.1):c.363del (p.(Ala122Glnfs*4)) - ARSF_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.406+117G>A r.(=) p.(=) - VUS g.2999171G>A g.3081130G>A - - ARSF_000008 - - - - Germline - - - - - Yu Sun
?/. 1 - c.598A>G r.(?) p.(Ile200Val) - VUS g.3002475A>G g.3084434A>G - - ARSF_000027 recurrent, found 8 times PubMed: Tarpey 2009 - - Germline - 8/208 cases - - - Lucy Raymond
-?/. 1 - c.748G>C r.(?) p.(Gly250Arg) - likely benign g.3002625G>C g.3084584G>C ARSF(NM_001201539.1):c.748G>C (p.G250R) - ARSF_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.810A>G r.(=) p.(=) - VUS g.3002687A>G g.3084646A>G E270E - ARSF_000028 recurrent, found 22 times PubMed: Tarpey 2009 - - Germline - 22/208 cases - - - Lucy Raymond
-?/. 1 - c.1102+5G>A r.spl? p.? - likely benign g.3019267G>A g.3101226G>A ARSF(NM_001201538.1):c.1102+5G>A (p.?) - ARSF_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1139G>A r.(?) p.(Arg380His) - likely benign g.3021839G>A g.3103798G>A ARSF(NM_001201539.1):c.1139G>A (p.R380H) - ARSF_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1141G>A r.(?) p.(Val381Ile) - VUS g.3021841G>A g.3103800G>A - - ARSF_000029 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.1271T>C r.(?) p.(Ile424Thr) - VUS g.3028174T>C g.3110133T>C ARSF(NM_001201539.1):c.1271T>C (p.I424T) - ARSF_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1357C>T r.(=) p.(=) - VUS g.3028260C>T g.3110219C>T L453L - ARSF_000030 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - - - Lucy Raymond
?/. 1 - c.1369C>T r.(?) p.(Arg457Trp) - VUS g.3028272C>T g.3110231C>T ARSF(NM_001201539.1):c.1369C>T (p.R457W) - ARSF_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1386C>T r.(=) p.(=) - VUS g.3028289C>T g.3110248C>T D462D - ARSF_000031 recurrent, found 10 times PubMed: Tarpey 2009 - - Germline - 10/208 cases - - - Lucy Raymond
?/. 1 - c.1483G>A r.(?) p.(Gly495Arg) - VUS g.3030307G>A g.3112266G>A ARSF(NM_001201539.1):c.1483G>A (p.G495R) - ARSF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1579C>A r.(?) p.(His527Asn) - VUS g.3030403C>A g.3112362C>A - - ARSF_000032 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.1579C>T r.(?) p.(His527Tyr) - VUS g.3030403C>T g.3112362C>T - - ARSF_000033 recurrent, found 16 times PubMed: Tarpey 2009 - - Germline - 16/208 cases - - - Lucy Raymond
?/. 1 - c.1602G>A r.(=) p.(=) - VUS g.3030426G>A g.3112385G>A V534V - ARSF_000034 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - Lucy Raymond
?/. 1 - c.1621C>T r.(?) p.(His541Tyr) - VUS g.3030445C>T - ARSF(NM_001201539.1):c.1621C>T (p.H541Y) - ARSF_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*18_*67del r.(=) p.(=) - VUS g.3030615_3030664del g.3112574_3112623del ARSF(NM_001201538.1):c.1753_*29del (p.(=)) - ARSF_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*18_*67dup r.(=) p.(=) - likely benign g.3030615_3030664dup g.3112574_3112623dup 1 more item - ARSF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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