NM_001378454.1(ALMS1):c.764+3A>G AND Alstrom syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 18, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000668879.1
Allele description [Variation Report for NM_001378454.1(ALMS1):c.764+3A>G]
NM_001378454.1(ALMS1):c.764+3A>G
Condition(s)
-
Homo sapiens iron-sulfur cluster assembly enzyme (ISCU), transcript variant 2, m...
Homo sapiens iron-sulfur cluster assembly enzyme (ISCU), transcript variant 2, mRNAgi|190883482|ref|NM_213595.2|Nucleotide
-
3-oxo-5-alpha-steroid 4-dehydrogenase 1 [Pelodiscus sinensis]
3-oxo-5-alpha-steroid 4-dehydrogenase 1 [Pelodiscus sinensis]gi|558181417|ref|XP_006127357.1|Protein
-
Bacteroides sp. AF16-29, whole genome shotgun sequencing project
Bacteroides sp. AF16-29, whole genome shotgun sequencing projectgi|1484188309|gb|QTMP00000000.1|QTM 0000Nucleotide
-
Pre-rRNA-processing protein pro-1 [Caenorhabditis elegans]
Pre-rRNA-processing protein pro-1 [Caenorhabditis elegans]gi|17535671|ref|NP_496271.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022