All variants in the MTPAP gene

Information The variants shown are described using the NM_018109.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.-7_-5dup r.(?) p.(=) - benign g.30638228_30638230dup g.30349299_30349301dup MTPAP(NM_018109.3):c.-7_-5dupTTT - MTPAP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-6_-5del r.(?) p.(=) - benign g.30638229_30638230del g.30349300_30349301del MTPAP(NM_018109.3):c.-6_-5delTT - MTPAP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-5del r.(?) p.(=) - benign g.30638230del g.30349301del MTPAP(NM_018109.3):c.-5delT - MTPAP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.22C>G r.(?) p.(Leu8Val) - likely benign g.30638183G>C - MTPAP(NM_018109.3):c.22C>G (p.L8V) - MTPAP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.33T>C r.(?) p.(Arg11=) - likely benign g.30638172A>G g.30349243A>G MTPAP(NM_018109.3):c.33T>C (p.R11=) - MTPAP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.101G>C r.(?) p.(Gly34Ala) - likely benign g.30638104C>G g.30349175C>G MTPAP(NM_018109.3):c.101G>C (p.G34A) - MTPAP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.115G>T r.(?) p.(Asp39Tyr) - benign g.30638090C>A g.30349161C>A MTPAP(NM_018109.3):c.115G>T (p.D39Y) - MTPAP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.158-9C>T r.(=) p.(=) - benign g.30630578G>A g.30341649G>A MTPAP(NM_018109.3):c.158-9C>T - MTPAP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.255A>T r.(?) p.(Lys85Asn) - likely benign g.30630472T>A g.30341543T>A MTPAP(NM_018109.3):c.255A>T (p.K85N) - MTPAP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.484C>T r.(?) p.(Arg162Cys) - benign g.30629226G>A g.30340297G>A MTPAP(NM_018109.3):c.484C>T (p.R162C) - MTPAP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.484C>T r.(?) p.(Arg162Cys) - benign g.30629226G>A g.30340297G>A MTPAP(NM_018109.3):c.484C>T (p.R162C) - MTPAP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.484C>T r.(?) p.(Arg162Cys) - benign g.30629226G>A g.30340297G>A MTPAP(NM_018109.3):c.484C>T (p.R162C) - MTPAP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.555+19C>T r.(=) p.(=) - benign g.30629136G>A g.30340207G>A MTPAP(NM_018109.3):c.555+19C>T - MTPAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.555+19C>T r.(=) p.(=) - benign g.30629136G>A g.30340207G>A MTPAP(NM_018109.3):c.555+19C>T - MTPAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.555+19C>T r.(=) p.(=) - benign g.30629136G>A g.30340207G>A MTPAP(NM_018109.3):c.555+19C>T - MTPAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.609C>T r.(?) p.(Asn203=) - likely benign g.30625903G>A - MTPAP(NM_018109.3):c.609C>T (p.N203=) - MTPAP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.861_862del r.(?) p.(Leu288ArgfsTer5) - VUS g.30615486_30615487del g.30326557_30326558del MTPAP(NM_018109.3):c.861_862delGT (p.L288Rfs*5) - MTPAP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.925C>T r.(?) p.(Arg309Trp) - VUS g.30615420G>A g.30326491G>A MTPAP(NM_018109.3):c.925C>T (p.(Arg309Trp)) - MTPAP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.960C>T r.(?) p.(Ser320=) - likely benign g.30615385G>A g.30326456G>A MTPAP(NM_018109.3):c.960C>T (p.S320=) - MTPAP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1220-2918T>C r.(=) p.(=) - VUS g.30608057A>G g.30319128A>G - - MTPAP_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.1312+3A>G r.spl? p.? - likely benign g.30605044T>C g.30316115T>C - - MTPAP_000019 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117698926 Germline - 4/2783 individuals - 0 - Mohammed Faruq
-?/. - c.1313-3C>T r.spl? p.? - likely benign g.30604968G>A g.30316039G>A MTPAP(NM_018109.3):c.1313-3C>T - MTPAP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1386+6T>C r.(=) p.(=) - likely benign g.30604886A>G g.30315957A>G MTPAP(NM_018109.3):c.1386+6T>C - MTPAP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1637G>A r.(?) p.(Ser546Asn) - likely benign g.30602650C>T g.30313721C>T MTPAP(NM_018109.3):c.1637G>A (p.S546N) - MTPAP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1643A>C r.(?) p.(Lys548Thr) - likely benign g.30602644T>G g.30313715T>G MTPAP(NM_018109.3):c.1643A>C (p.K548T) - MTPAP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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