NM_001267550.2(TTN):c.70597C>T (p.Pro23533Ser) AND Autosomal recessive limb-girdle muscular dystrophy type 2J
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000364947.5
Allele description [Variation Report for NM_001267550.2(TTN):c.70597C>T (p.Pro23533Ser)]
NM_001267550.2(TTN):c.70597C>T (p.Pro23533Ser)
Condition(s)
-
B-cell lymphoma 6 protein isoform 2 [Homo sapiens]
B-cell lymphoma 6 protein isoform 2 [Homo sapiens]gi|197927147|ref|NP_001128210.1|Protein
-
MCTP2 protein [Homo sapiens]
MCTP2 protein [Homo sapiens]gi|71296940|gb|AAH41387.1|Protein
-
C1801959 (0)
MedGen
-
PER3 [Gorilla gorilla gorilla]
PER3 [Gorilla gorilla gorilla]Gene ID:101132704Gene
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024