All transcript variants in gene BGLAP

Information The variants shown are described using the NM_199173.4 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.-29180T>C likely benign r.(?) p.(=) g.156182843T>C - PMF1(NM_001199653.1):c.37T>C (p.(Cys13Arg)) - BGLAP_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*1648G>A likely benign r.(=) p.(=) g.156214601G>A - PAQR6(NM_001272104.1):c.711C>T (p.(=), p.(Ser15Leu), NP_) - BGLAP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*1688C>A likely benign r.(=) p.(=) g.156214641C>A - PAQR6(NM_001272104.1):c.671G>T (p.(Gly224Val), p.(Gly221Val), p.(Gly118Val), p.(Gly113Val), p.(Ala2Ser), p.(Ala2S) - BGLAP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*1722C>T likely benign r.(=) p.(=) g.156214675C>T - PAQR6(NM_024897.3):c.319G>A (p.G107S) - BGLAP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*2394G>A VUS r.(=) p.(=) g.156215347G>A - PAQR6(NM_001272104.1):c.491C>T (p.(Thr164Ile), p.(Thr161Ile), p.(Pro31Ser), p.(Thr58Ile)) - BGLAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.*2405G>A likely benign r.(=) p.(=) g.156215358G>A - PAQR6(NM_001272104.1):c.480C>T (p.(=), p.(Pro27Leu)) - BGLAP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*2830G>A VUS r.(=) p.(=) g.156215783G>A - PAQR6(NM_001272104.1):c.180-5C>T (p.?, p.(=)) - BGLAP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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