NM_012472.6(DNAAF11):c.1281T>C (p.Asp427=) AND Primary ciliary dyskinesia 19
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003537326.2
Allele description [Variation Report for NM_012472.6(DNAAF11):c.1281T>C (p.Asp427=)]
NM_012472.6(DNAAF11):c.1281T>C (p.Asp427=)
Condition(s)
-
UTP--glucose-1-phosphate uridylyltransferase, partial [Lactobacillus sp. RTP3108...
UTP--glucose-1-phosphate uridylyltransferase, partial [Lactobacillus sp. RTP31084st1_G10_RTP31084_210423]gi|2779505709|ref|WP_368298247.1|Protein
-
MULTISPECIES: transglutaminase domain-containing protein, partial [unclassified ...
MULTISPECIES: transglutaminase domain-containing protein, partial [unclassified Coprococcus]gi|2744978691|ref|WP_349822584.1|Protein
-
C1 family peptidase, partial [Lactobacillus sp. RTP31084st1_G10_RTP31084_210423]
C1 family peptidase, partial [Lactobacillus sp. RTP31084st1_G10_RTP31084_210423]gi|2779505701|ref|WP_368298240.1|Protein
-
HNH/ENDO VII family nuclease [Coprococcus sp. RTP31081st1_H1_RTP31081_211007]
HNH/ENDO VII family nuclease [Coprococcus sp. RTP31081st1_H1_RTP31081_211007]gi|2744980733|ref|WP_349824061.1|Protein
-
MULTISPECIES: helicase-related protein [unclassified Coprococcus]
MULTISPECIES: helicase-related protein [unclassified Coprococcus]gi|2744976818|ref|WP_349821195.1|Protein
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Last Updated: Oct 8, 2024