Unique variants in gene ATP1B4

Information The variants shown are described using the NM_001142447.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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     
?/. 1 1 c.23G>C r.(?) p.(Arg8Thr) - - g.119496046G>C - R8T - ATP1B4_000022 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.133G>A r.(?) p.(Val45Met) - VUS g.119500449G>A - ATP1B4(NM_001142447.2):c.133G>A (p.(Val45Met)) - ATP1B4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 2 c.261G>A r.(?) p.(=) - - g.119500577G>A - Q87Q - ATP1B4_000023 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.303T>G r.(?) p.(Phe101Leu) - likely benign g.119500619T>G - ATP1B4(NM_001142447.3):c.303T>G (p.F101L) - ATP1B4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.328+312C>A - p.(=) - - g.119500956C>A g.120367101C>A - - ATP1B4_000013 - - - - Germline - - - - - Yu Sun
?/. 2 - c.563-143del - p.(=) - - g.119509084del g.120375229del - - ATP1B4_000016 - - - - Germline - - - - - Yu Sun
?/. 2 - c.563-141del - p.(=) - - g.119509086del g.120375231del - - ATP1B4_000004 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.608C>T r.(?) p.(Pro203Leu) - likely benign g.119509272C>T - ATP1B4(NM_001142447.3):c.608C>T (p.P203L) - ATP1B4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.759+209C>A - p.(=) - - g.119509632C>A g.120375777C>A - - ATP1B4_000006 - - - - Germline - - - - - Yu Sun
?/. 2 - c.759+274G>C - p.(=) - - g.119509697G>C g.120375842G>C - - ATP1B4_000009 - - - - Germline - - - - - Yu Sun
?/. 1 - c.759+292C>A - p.(=) - - g.119509715C>A g.120375860C>A - - ATP1B4_000012 - - - - Germline - - - - - Yu Sun
?/. 2 - c.760-91C>G - p.(=) - - g.119510144C>G g.120376289C>G - - ATP1B4_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.865G>T r.(?) p.(Ala289Ser) - likely benign g.119512581G>T - ATP1B4(NM_012069.4):c.853G>T (p.A285S) - ATP1B4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 8 c.922A>T r.(?) p.(Thr308Ser) - likely benign g.119513337A>T - ATP1B4(NM_001142447.2):c.922A>T (p.(Thr308Ser)), T304S - ATP1B4_000021 VKGL data sharing initiative Nederland, found once, nonrecurrent change PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - VKGL-NL_Leiden, Lucy Raymond
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