Full data view for gene NARS2

Information The variants shown are described using the NM_024678.5 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.43T>C r.(?) p.(Ser15Pro) Unknown - VUS g.78285491A>G g.78574446A>G NARS2(NM_024678.6):c.43T>C (p.S15P) - NARS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.54C>T r.(?) p.(Pro18=) Unknown - likely benign g.78285480G>A - NARS2(NM_024678.6):c.54C>T (p.P18=) - NARS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170A>G r.(?) p.(Lys57Arg) Unknown - VUS g.78282461T>C - NARS2(NM_024678.6):c.170A>G (p.(Lys57Arg)) - NARS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206C>G r.(?) p.(Ser69Cys) Unknown - VUS g.78282425G>C g.78571380G>C NARS2(NM_024678.5):c.206C>G (p.(Ser69Cys)) - NARS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.311A>G r.(?) p.(Lys104Arg) Unknown - likely benign g.78279739T>C g.78568693T>C NARS2(NM_024678.6):c.311A>G (p.K104R) - NARS2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.422A>C r.(?) p.(Gln141Pro) Unknown - VUS g.78277269T>G - NARS2(NM_024678.6):c.422A>C (p.(Gln141Pro)) - NARS2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.492T>C r.(?) p.(Ala164=) Unknown - likely benign g.78277199A>G g.78566153A>G NARS2(NM_024678.6):c.492T>C (p.A164=) - NARS2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.514-3C>T r.spl? p.? Unknown - likely benign g.78270668G>A g.78559622G>A NARS2(NM_024678.6):c.514-3C>T - NARS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.640C>A r.(?) p.(Pro214Thr) Unknown - VUS g.78239937G>T g.78528891G>T NARS2(NM_024678.6):c.640C>A (p.P214T, p.(Pro214Thr)) - NARS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.640C>A r.(?) p.(Pro214Thr) Unknown - VUS g.78239937G>T - NARS2(NM_024678.6):c.640C>A (p.P214T, p.(Pro214Thr)) - NARS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.822G>C r.690_822del p.Ala231_Gln274del Both (homozygous) - pathogenic g.78204109C>G g.78493063C>G G822C - NARS2_000001 cDNA sequencing in EBV-transformed lymphoblasts PubMed: Vanlander 2015, Journal: Vanlander 2015 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG lymphocytes - MEOAL;MMDS8 25385316-FamPatII1 PubMed: Vanlander 2015, Journal: Vanlander 2015 2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents F yes Morocco African >34y - - - 2 Arnaud Vanlander
+/. 7 c.822G>C r.690_822del p.Ala231_Gln274del Both (homozygous) - pathogenic g.78204109C>G g.78493063C>G - - NARS2_000001 cDNA sequencing in EBV-transformed lymphoblasts PubMed: Vanlander 2015, Journal: Vanlander 2015 - - Germline yes - - - - DNA, RNA RT-PCR, SBE, SEQ-NG lymphocytes - MRT 25385316-FamPatII2 PubMed: Vanlander 2015, Journal: Vanlander 2015 - M yes Morocco African >26y - - - 1 Arnaud Vanlander
+/. - c.822G>C r.(?) p.(Gln274His) Unknown - pathogenic g.78204109C>G g.78493063C>G - - NARS2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.822+6T>A r.(=) p.(=) Unknown - likely benign g.78204103A>T - NARS2(NM_024678.6):c.822+6T>A - NARS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.859G>C r.(?) p.(Val287Leu) Unknown - VUS g.78189693C>G - NARS2(NM_024678.6):c.859G>C (p.V287L) - NARS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.899A>G r.(?) p.(Lys300Arg) Parent #1 - benign g.78189653T>C g.78478607T>C - - NARS2_000010 22 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116930926 Germline - 22/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 22 Mohammed Faruq
?/. - c.949_951del r.(?) p.(Asn317del) Unknown - VUS g.78189495_78189497del - NARS2(NM_024678.6):c.949_951delAAC (p.N317del) - NARS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026+10T>C r.(=) p.(=) Unknown - likely benign g.78180283A>G - NARS2(NM_024678.6):c.1026+10T>C - NARS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026+10T>C r.(=) p.(=) Unknown - likely benign g.78180283A>G - NARS2(NM_024678.6):c.1026+10T>C - NARS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1082A>G r.(?) p.(Asn361Ser) Unknown - likely benign g.78177004T>C g.78465958T>C NARS2(NM_024678.6):c.1082A>G (p.N361S) - NARS2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1120A>C r.(?) p.(Lys374Gln) Unknown - likely pathogenic g.78176966T>G g.78465920T>G NARS2(NM_024678.6):c.1120A>C (p.K374Q) - NARS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1165-7del r.(=) p.(=) Unknown - likely benign g.78154822del - NARS2(NM_024678.6):c.1165-7del - NARS2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1209T>C r.(?) p.(Phe403=) Unknown - likely benign g.78154760A>G - NARS2(NM_024678.6):c.1209T>C (p.F403=) - NARS2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1224A>G r.(?) p.(Arg408=) Unknown - likely benign g.78154745T>C - NARS2(NM_024678.6):c.1224A>G (p.R408=) - NARS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1289+7A>G r.(=) p.(=) Unknown - likely benign g.78152130T>C g.78441084T>C NARS2(NM_024678.6):c.1289+7A>G - NARS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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