NM_001458.5(FLNC):c.7421G>T (p.Gly2474Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003805040.2
Allele description [Variation Report for NM_001458.5(FLNC):c.7421G>T (p.Gly2474Val)]
NM_001458.5(FLNC):c.7421G>T (p.Gly2474Val)
Condition(s)
- Name:
- Myofibrillar myopathy 5
- Synonyms:
- FILAMINOPATHY, AUTOSOMAL DOMINANT; Myofibrillar myopathy, filamin C-related; Filaminopathy (type)
- Identifiers:
- MONDO: MONDO:0012289; MedGen: C1836050; OMIM: 609524
- Name:
- Distal myopathy with posterior leg and anterior hand involvement
- Synonyms:
- WILLIAMS DISTAL MYOPATHY; Myopathy, distal, 4
- Identifiers:
- MONDO: MONDO:0013550; MedGen: C3279722; Orphanet: 63273; OMIM: 614065
- Name:
- Hypertrophic cardiomyopathy 26
- Synonyms:
- Cardiomyopathy, familial hypertrophic, 26
- Identifiers:
- MONDO: MONDO:0014883; MedGen: C4310749; Orphanet: 75249; OMIM: 617047
- Name:
- Dilated Cardiomyopathy, Dominant
- Identifiers:
- MedGen: CN239310
-
Aureobasidium pullulans strain EXF-10507 contig_29, whole genome shotgun sequenc...
Aureobasidium pullulans strain EXF-10507 contig_29, whole genome shotgun sequencegi|1624977688|gb|QZAR01000030.1||gn :QZAR01|contig_29Nucleotide
-
Aureobasidium pullulans strain EXF-10507 contig_77, whole genome shotgun sequenc...
Aureobasidium pullulans strain EXF-10507 contig_77, whole genome shotgun sequencegi|1624974063|gb|QZAR01000078.1||gn :QZAR01|contig_77Nucleotide
-
Aureobasidium pullulans strain EXF-10507 contig_105, whole genome shotgun sequen...
Aureobasidium pullulans strain EXF-10507 contig_105, whole genome shotgun sequencegi|1624972504|gb|QZAR01000106.1||gn :QZAR01|contig_105Nucleotide
-
Aureobasidium pullulans strain EXF-10507 contig_69, whole genome shotgun sequenc...
Aureobasidium pullulans strain EXF-10507 contig_69, whole genome shotgun sequencegi|1624974572|gb|QZAR01000070.1||gn :QZAR01|contig_69Nucleotide
-
JGI_XZT38586.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7614697 3'...
JGI_XZT38586.rev NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7614697 3', mRNA sequencegi|71585725|gnl|dbEST|30416097|gb|D 73.1|Nucleotide
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Last Updated: Sep 29, 2024