NM_021625.5(TRPV4):c.810G>A (p.Gly270=) 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:
- RCV001172944.9
Allele description [Variation Report for NM_021625.5(TRPV4):c.810G>A (p.Gly270=)]
NM_021625.5(TRPV4):c.810G>A (p.Gly270=)
Condition(s)
-
PARP6 poly(ADP-ribose) polymerase family member 6 [Homo sapiens]
PARP6 poly(ADP-ribose) polymerase family member 6 [Homo sapiens]Gene ID:56965Gene
-
Gene Links for Nucleotide (Select 1674986093) (1)
Gene
-
Homo sapiens chromosome 9, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 9, GRCh38.p14 Primary Assemblygi|568815589|gnl|ASM:GCF_000001305| |NC_000009.12||gpp|GPC_000001301.1||gnl|NCBI_GENOMES|9Nucleotide
-
"family_id=SH057"[attr] (2)
BioSample
-
Cloning vector psiLentGene Basic, complete sequence
Cloning vector psiLentGene Basic, complete sequencegi|45655410|gb|AY508731.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 12, 2024