NM_001004742.3(OR5M3):c.849G>T (p.Leu283Phe) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004499750.1
Allele description [Variation Report for NM_001004742.3(OR5M3):c.849G>T (p.Leu283Phe)]
NM_001004742.3(OR5M3):c.849G>T (p.Leu283Phe)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens 12 BAC RP11-1136G11 (Roswell Park Cancer Institute Human BAC Librar...
Homo sapiens 12 BAC RP11-1136G11 (Roswell Park Cancer Institute Human BAC Library) complete sequencegi|16572851|gnl|bcmhgsc|project_hbh lor|gb|AC073573.27|Nucleotide
-
Homo sapiens beta-globin (HBB) gene, with t to c mutation L114P resulting in dom...
Homo sapiens beta-globin (HBB) gene, with t to c mutation L114P resulting in dominant beta-thalassemia intermedia, (J00179 bases 61971-63802)gi|1066763|gb|L48932.1|HUMHBB114PNucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024