NM_021619.3(PRDM12):c.682+10C>A AND Congenital insensitivity to pain-hypohidrosis syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002200833.5
Allele description [Variation Report for NM_021619.3(PRDM12):c.682+10C>A]
NM_021619.3(PRDM12):c.682+10C>A
Condition(s)
-
ym52h12.s1 Soares infant brain 1NIB Homo sapiens cDNA clone IMAGE:52103 3', mRNA...
ym52h12.s1 Soares infant brain 1NIB Homo sapiens cDNA clone IMAGE:52103 3', mRNA sequencegi|892149|gnl|dbEST|283965|gb|H2345Nucleotide
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CFAP69 cilia and flagella associated protein 69 [Homo sapiens]
CFAP69 cilia and flagella associated protein 69 [Homo sapiens]Gene ID:79846Gene
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Homo sapiens isolate CHM13 chromosome 14, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 14, alternate assembly T2T-CHM13v2.0gi|2194973091|gnl|ASM:GCF_009914825 ef|NC_060938.1||gpp|GPC_000012753.1||gnl|NCBI_GENOMES|119574Nucleotide
-
PREDICTED: Homo sapiens syntaxin 3 (STX3), transcript variant X2, mRNA
PREDICTED: Homo sapiens syntaxin 3 (STX3), transcript variant X2, mRNAgi|2462527195|ref|XM_054369760.1|Nucleotide
-
Conserved Domain Links for Protein (Select 30181009) (1)
Conserved Domains
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Last Updated: Feb 28, 2024