NM_001540.5(HSPB1):c.235C>T (p.Arg79Trp) AND Charcot-Marie-Tooth disease
- Germline classification:
- Benign (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001174173.1
Allele description [Variation Report for NM_001540.5(HSPB1):c.235C>T (p.Arg79Trp)]
NM_001540.5(HSPB1):c.235C>T (p.Arg79Trp)
Condition(s)
-
Homo sapiens ARM-repeat protein mRNA, complete cds; alternatively spliced
Homo sapiens ARM-repeat protein mRNA, complete cds; alternatively splicedgi|32402047|gb|AY313779.1|Nucleotide
-
647167[uid] (1)
Taxonomy
-
Chain B, PROTEIN (RANTES)
Chain B, PROTEIN (RANTES)gi|4929867|pdb|1B3A|BProtein
-
Enterobacter kobei strain M25166 2, whole genome shotgun sequence
Enterobacter kobei strain M25166 2, whole genome shotgun sequencegi|2806727401|ref|NZ_JBHGRR01000000 gnl|WGS:NZ_JBHGRR01|2Nucleotide
-
Enterobacter kobei strain 4172 contig23, whole genome shotgun sequence
Enterobacter kobei strain 4172 contig23, whole genome shotgun sequencegi|2739054740|ref|NZ_JBDYJI01000002 gnl|WGS:NZ_JBDYJI01|contig23Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022