LDLR c.1516dup ;(p.V506Gfs*30)

Variant ID: 19-11224367-C-CG

NM_000527.4(LDLR):c.1516dup;(p.V506Gfs*30)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Vora, Neeta L NL; Gilmore, Kelly K; Brandt, Alicia A; Gustafson, Chelsea C; Strande, Natasha N; Ramkissoon, Lori L; Hardisty, Emily E; Foreman, Ann Katherine M AKM; Wilhelmsen, Kirk K; Owen, Phillips P; Weck, Karen E KE; Berg, Jonathan S JS; Powell, Cynthia M CM; Powell, Bradford C BC
Publication Date: 2020-05

Variant appearance in text: LDLR: 1516dup; Val506fs
PubMed Link: 31974414
Variant Present in the following documents:
  • Main text
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