All variants in the AMMECR1 gene

Information The variants shown are described using the NM_001025580.1 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

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     
-?/. - c.219C>A r.(?) p.(Pro73=) - likely benign g.109561081G>T - AMMECR1(NM_015365.2):c.219C>A (p.P73=) - AMMECR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.231C>T r.(?) p.(Gly77=) - likely benign g.109561069G>A g.110317841G>A AMMECR1(NM_015365.2):c.231C>T (p.G77=) - RGAG1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.251C>T r.(?) p.(Ala84Val) - likely benign g.109561049G>A g.110317821G>A AMMECR1(NM_015365.2):c.251C>T (p.A84V) - RGAG1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.283A>T r.(?) p.(Thr95Ser) - likely benign g.109561017T>A g.110317789T>A AMMECR1(NM_015365.2):c.283A>T (p.T95S) - RGAG1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.305C>T r.(?) p.(Ala102Val) - likely benign g.109560995G>A - AMMECR1(NM_015365.2):c.305C>T (p.A102V) - RGAG1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.340G>A r.(?) p.(Ala114Thr) - likely benign g.109560960C>T g.110317732C>T AMMECR1(NM_015365.2):c.340G>A (p.A114T) - RGAG1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.454dup r.(?) p.(Arg152Profs*10) - likely pathogenic g.109560851dup - AMMECR1(NM_001171689.2):c.85dupC (p.R29Pfs*47) - RGAG1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.473+1G>C r.spl? p.? - pathogenic g.109560826C>G g.110317598C>G AMMECR1(NM_001171689.1):c.104+1G>C - RGAG1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.474-47944T>C r.(=) p.(=) - likely benign g.109507804A>G - AMMECR1(NM_001171689.1):c.128T>C (p.I43T) - RGAG1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.676C>G r.(?) p.(Gln226Glu) - VUS g.109445677G>C g.110202449G>C AMMECR1(NM_001171689.2):c.418C>G (p.Q140E) - RGAG1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 5 c.960T>C r.(?) p.(=) - likely benign g.109441679A>G - N320N - AMMECR1_000003 recurrent, found 2 times Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
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