NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) AND ABCA4-related disorder
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Nov 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001102037.6
Allele description [Variation Report for NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)]
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
Condition(s)
- Name:
- ABCA4-related disorder
- Synonyms:
- ABCA4-Related Disorders; ABCA4-related condition
- Identifiers:
- MedGen: CN239167
-
kunitz-type protease inhibitor 1 precursor [Mus musculus]
kunitz-type protease inhibitor 1 precursor [Mus musculus]gi|34328234|ref|NP_058603.2|Protein
-
PREDICTED: Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1)...
PREDICTED: Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), transcript variant X17, misc_RNAgi|2217263858|ref|XR_921741.2|Nucleotide
-
MULTISPECIES: glucose-6-phosphate isomerase [Bordetella]
MULTISPECIES: glucose-6-phosphate isomerase [Bordetella]gi|489905035|ref|WP_003808462.1|Protein
-
PREDICTED: Cricetulus griseus helicase like transcription factor (Hltf), mRNA
PREDICTED: Cricetulus griseus helicase like transcription factor (Hltf), mRNAgi|1868072226|ref|XM_003508931.5|Nucleotide
-
zinc finger BED domain-containing protein 5 [Nomascus leucogenys]
zinc finger BED domain-containing protein 5 [Nomascus leucogenys]gi|332211779|ref|XP_003254992.1|Protein
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Last Updated: Sep 29, 2024