NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002491442.1
Allele description [Variation Report for NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys)]
NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys)
Condition(s)
-
MFI7 (9)
Nucleotide
-
Rattus norvegicus nudix (nucleoside diphosphate linked moiety X)-type motif 3, m...
Rattus norvegicus nudix (nucleoside diphosphate linked moiety X)-type motif 3, mRNA (cDNA clone MGC:105578 IMAGE:7311727), complete cdsgi|62471545|gb|BC093618.1|Nucleotide
-
MFI7 AND 1[s_discriminator] (0)
dbGaP
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Last Updated: Sep 29, 2024