NM_004006.3(DMD):c.9014T>A (p.Leu3005Ter) AND Duchenne muscular dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003621592.1
Allele description [Variation Report for NM_004006.3(DMD):c.9014T>A (p.Leu3005Ter)]
NM_004006.3(DMD):c.9014T>A (p.Leu3005Ter)
Condition(s)
-
Anelsonia[All Fields] (0)
MedGen
-
77147[uid] (1)
Taxonomy
-
tRNA delta(2)-isopentenylpyrophosphate transferase [Fructilactobacillus fructivo...
tRNA delta(2)-isopentenylpyrophosphate transferase [Fructilactobacillus fructivorans]gi|948929667|gb|KRN43538.1||gnl|WGS |IV48_GL000143Protein
-
titin isoform X15 [Homo sapiens]
titin isoform X15 [Homo sapiens]gi|2462576633|ref|XP_054199643.1|Protein
-
hypothetical protein IV48_GL000140 [Fructilactobacillus fructivorans]
hypothetical protein IV48_GL000140 [Fructilactobacillus fructivorans]gi|948929664|gb|KRN43535.1||gnl|WGS |IV48_GL000140Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024