Full data view for gene ACRC

NOTE: gene name changed from ACRC to GCNA
Information The variants shown are described using the NM_052957.4 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-4815C>A r.(?) p.(=) Unknown - likely benign g.70793560C>A g.71573710C>A OGT(NM_181672.3):c.3057C>A (p.L1019=) - OGT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.29G>T r.(?) p.(Arg10Leu) Unknown - likely benign g.70800700G>T g.71580850G>T ACRC(NM_052957.4):c.29G>T (p.R10L) - OGT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37G>A r.(?) p.(Glu13Lys) Unknown - likely benign g.70800708G>A - GCNA(NM_052957.4):c.37G>A (p.E13K) - OGT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.301A>G r.(?) p.(Asn101Asp) Unknown - likely benign g.70817879A>G g.71598029A>G ACRC(NM_052957.4):c.301A>G (p.N101D) - ACRC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309C>T r.(?) p.(Asp103=) Unknown - likely benign g.70817887C>T - GCNA(NM_052957.4):c.309C>T (p.D103=) - ACRC_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.361A>G r.(?) p.(Ile121Val) Unknown - likely benign g.70823488A>G g.71603638A>G ACRC(NM_052957.4):c.361A>G (p.(Ile121Val)) - ACRC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.422A>G r.(?) p.(Asp141Gly) Unknown - likely benign g.70823549A>G - ACRC(NM_052957.4):c.422A>G (p.(Asp141Gly)) - ACRC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.477_506del r.(?) p.(Glu177_Ser186del) Unknown - VUS g.70823604_70823633del g.71603754_71603783del ACRC(NM_052957.4):c.448_477del (p.(Asp151_Asp160del)) - ACRC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.484A>G r.(?) p.(Asn162Asp) Unknown - likely benign g.70823611A>G g.71603761A>G ACRC(NM_052957.4):c.484A>G (p.N162D) - ACRC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.491A>G r.(?) p.(Asp164Gly) Unknown - likely benign g.70823618A>G g.71603768A>G ACRC(NM_052957.4):c.491A>G (p.D164G) - ACRC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.511G>A r.(?) p.(Asp171Asn) Unknown - likely benign g.70823638G>A - GCNA(NM_052957.4):c.511G>A (p.D171N) - ACRC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.565C>T r.(?) p.(Pro189Ser) Unknown - likely benign g.70823692C>T g.71603842C>T ACRC(NM_052957.4):c.565C>T (p.P189S) - ACRC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.624C>G r.(?) p.(Asn208Lys) Unknown - VUS g.70823751C>G g.71603901C>G ACRC(NM_052957.4):c.624C>G (p.(Asn208Lys)), GCNA(NM_052957.4):c.624C>G (p.N208K) - ACRC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624C>G r.(?) p.(Asn208Lys) Unknown - likely benign g.70823751C>G g.71603901C>G ACRC(NM_052957.4):c.624C>G (p.(Asn208Lys)), GCNA(NM_052957.4):c.624C>G (p.N208K) - ACRC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.648C>A r.(?) p.(Asp216Glu) Unknown - VUS g.70823775C>A g.71603925C>A ACRC(NM_052957.4):c.648C>A (p.(Asp216Glu)), GCNA(NM_052957.4):c.648C>A (p.D216E) - ACRC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648C>A r.(?) p.(Asp216Glu) Unknown - likely benign g.70823775C>A - ACRC(NM_052957.4):c.648C>A (p.(Asp216Glu)), GCNA(NM_052957.4):c.648C>A (p.D216E) - ACRC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.653_654delinsGC r.(?) p.(Lys218Ser) Maternal (inferred) ACMG likely pathogenic g.70823780_70823781delinsGC g.71603930_71603931delinsGC - - ACRC_000033 - - - - Germline/De novo (untested) - - - - - DNA PCRdig blood - INF Pat2 - - M yes Israel Arab - - - - 1 Ruti Parvari
-?/. - c.718G>T r.(?) p.(Asp240Tyr) Unknown - likely benign g.70823845G>T g.71603995G>T ACRC(NM_052957.4):c.718G>T (p.D240Y) - ACRC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.823C>T r.(?) p.(Pro275Ser) Unknown - likely benign g.70823950C>T g.71604100C>T ACRC(NM_052957.4):c.823C>T (p.(Pro275Ser)) - ACRC_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.883_912del r.(?) p.(Ser295_Ala304del) Unknown - VUS g.70824010_70824039del g.71604160_71604189del ACRC(NM_052957.4):c.824_853del (p.?) - ACRC_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.923A>G r.(?) p.(Lys308Arg) Unknown - VUS g.70824050A>G g.71604200A>G ACRC(NM_052957.4):c.923A>G (p.K308R, p.(Lys308Arg)) - ACRC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.923A>G r.(?) p.(Lys308Arg) Unknown - likely benign g.70824050A>G g.71604200A>G ACRC(NM_052957.4):c.923A>G (p.K308R, p.(Lys308Arg)) - ACRC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.924G>C r.(?) p.(Lys308Asn) Unknown - VUS g.70824051G>C g.71604201G>C ACRC(NM_052957.4):c.924G>C (p.K308N, p.(Lys308Asn)) - ACRC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.924G>C r.(?) p.(Lys308Asn) Unknown - likely benign g.70824051G>C g.71604201G>C ACRC(NM_052957.4):c.924G>C (p.K308N, p.(Lys308Asn)) - ACRC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1107T>C r.(?) p.(=) Unknown - benign g.70824234T>C - GCNA(NM_052957.5):c.1107T>C (p.(Asp369=)) - ACRC_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1180G>T r.(?) p.(Glu394*) Unknown ACMG likely pathogenic (dominant) g.70824307G>T g.71604457G>T - - ACRC_000032 - - - - Germline ? - - - - DNA PCRdig blood - INF Pat1 - - M yes Israel Bedouin - - - - 1 Ruti Parvari
-?/. - c.1338A>C r.(?) p.(Lys446Asn) Unknown - likely benign g.70824465A>C g.71604615A>C ACRC(NM_052957.4):c.1338A>C (p.K446N) - ACRC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1340A>G r.(?) p.(Asn447Ser) Unknown - likely benign g.70824467A>G - ACRC(NM_052957.4):c.1340A>G (p.(Asn447Ser)) - ACRC_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1431A>T r.(?) p.(Lys477Asn) Unknown - VUS g.70825544A>T - GCNA(NM_052957.4):c.1431A>T (p.K477N) - ACRC_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1507del r.(?) p.(Glu504Lysfs*11) Maternal (inferred) - pathogenic g.70828863del g.71609013del NM_052957.5:c.1507del - ACRC_000038 - PubMed: Kherraf 2022, Journal: Kherraf 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM P0137 PubMed: Kherraf 2022, Journal: Kherraf 2022 analysis 96 unrelated men M - Algeria - - - - - 1 Johan den Dunnen
-?/. - c.1633G>A r.(?) p.(Gly545Ser) Unknown - likely benign g.70830552G>A - GCNA(NM_052957.4):c.1633G>A (p.G545S) - ACRC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1751-245_1751-244del r.(=) p.(=) Unknown - VUS g.70831960_70831961del g.71612110_71612111del - - ACRC_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1751-46del r.(=) p.(=) Unknown - VUS g.70832159del g.71612309del - - ACRC_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1875G>A r.(?) p.(Pro625=) Unknown - likely benign g.70832329G>A - GCNA(NM_052957.4):c.1875G>A (p.P625=) - ACRC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1963T>G r.(?) p.(Cys655Gly) Unknown - likely benign g.70832719T>G g.71612869T>G ACRC(NM_052957.4):c.1963T>G (p.C655G) - ACRC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1985C>T r.(?) p.(Thr662Ile) Unknown - likely benign g.70832741C>T - GCNA(NM_052957.5):c.1985C>T (p.(Thr662Ile)) - ACRC_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2056C>T r.(?) p.(Arg686Cys) Unknown - VUS g.70832812C>T g.71612962C>T GCNA(NM_052957.4):c.2056C>T (p.R686C) - ACRC_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*423T>G r.(=) p.(=) Unknown - VUS g.70833255T>G g.71613405T>G - - ACRC_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.*3443C>T r.(=) p.(=) Unknown - likely benign g.70836275C>T g.71616425C>T CXCR3(NM_001142797.1):c.1188G>A (p.S396=) - ACRC_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3683G>T r.(=) p.(=) Unknown - likely benign g.70836515G>T - CXCR3(NM_001142797.1):c.948C>A (p.T316=) - ACRC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3715C>T r.(=) p.(=) Unknown - VUS g.70836547C>T - CXCR3(NM_001504.2):c.775G>A (p.(Val259Met)) - ACRC_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3931A>T r.(=) p.(=) Unknown - likely benign g.70836763A>T g.71616913A>T CXCR3(NM_001142797.1):c.700T>A (p.F234I) - ACRC_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4191G>A r.(=) p.(=) Unknown - VUS g.70837023G>A g.71617173G>A CXCR3(NM_001142797.1):c.440C>T (p.T147M, p.(Thr147Met)) - CXCR3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4191G>A r.(=) p.(=) Unknown - likely benign g.70837023G>A g.71617173G>A CXCR3(NM_001142797.1):c.440C>T (p.T147M, p.(Thr147Met)) - CXCR3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4394G>T r.(=) p.(=) Unknown - likely benign g.70837226G>T g.71617376G>T CXCR3(NM_001142797.1):c.237C>A (p.N79K) - CXCR3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4563T>A r.(=) p.(=) Unknown - likely benign g.70837395T>A g.71617545T>A CXCR3(NM_001142797.1):c.68A>T (p.K23I) - CXCR3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4590G>A r.(=) p.(=) Unknown - likely benign g.70837422G>A g.71617572G>A CXCR3(NM_001142797.1):c.41C>T (p.T14I) - ACRC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4620C>T r.(=) p.(=) Unknown - VUS g.70837452C>T - CXCR3(NM_001142797.1):c.11G>A (p.R4K) - ACRC_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4625C>A r.(=) p.(=) Unknown - likely benign g.70837457C>A - CXCR3(NM_001142797.1):c.6G>T (p.E2D) - ACRC_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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