NM_000260.4(MYO7A):c.604del (p.Ala202fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002745229.3
Allele description [Variation Report for NM_000260.4(MYO7A):c.604del (p.Ala202fs)]
NM_000260.4(MYO7A):c.604del (p.Ala202fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
PREDICTED: Pan troglodytes ATP synthase peripheral stalk-membrane subunit b (ATP...
PREDICTED: Pan troglodytes ATP synthase peripheral stalk-membrane subunit b (ATP5PB), transcript variant X3, mRNAgi|2468433793|ref|XM_513639.7|Nucleotide
-
RecName: Full=Serine palmitoyltransferase 1; AltName: Full=Long chain base biosy...
RecName: Full=Serine palmitoyltransferase 1; AltName: Full=Long chain base biosynthesis protein 1; Short=LCB 1; AltName: Full=Serine-palmitoyl-CoA transferase 1; Short=SPT 1; Short=SPT1gi|1574042698|sp|D4A2H2.1|SPTC1_RATProtein
-
translation elongation factor EF1B/ribosomal protein S6 family protein [Arabidop...
translation elongation factor EF1B/ribosomal protein S6 family protein [Arabidopsis thaliana]gi|145324076|ref|NP_001077627.1|Protein
-
ScaE_5031 Bay scallop Uni-ZAP XR Expression Library Argopecten irradians cDNA 5'...
ScaE_5031 Bay scallop Uni-ZAP XR Expression Library Argopecten irradians cDNA 5' similar to Argopecten irradians cDNA library, unknown, mRNA sequencegi|56937241|gnl|dbEST|17162596|gb|C 80.1|Nucleotide
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Last Updated: Sep 29, 2024