NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 10, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001766742.2
Allele description [Variation Report for NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu)]
NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
zl48h05.r1 Soares_pregnant_uterus_NbHPU Homo sapiens cDNA clone IMAGE:505209 5',...
zl48h05.r1 Soares_pregnant_uterus_NbHPU Homo sapiens cDNA clone IMAGE:505209 5', mRNA sequencegi|1712421|gnl|dbEST|781583|gb|AA14 1|Nucleotide
-
zl33g01.r1 Soares_pregnant_uterus_NbHPU Homo sapiens cDNA clone IMAGE:503760 5',...
zl33g01.r1 Soares_pregnant_uterus_NbHPU Homo sapiens cDNA clone IMAGE:503760 5', mRNA sequencegi|1693142|gnl|dbEST|771518|gb|AA13 1|Nucleotide
-
yz73h11.s1 Soares_multiple_sclerosis_2NbHMSP Homo sapiens cDNA clone IMAGE:28874...
yz73h11.s1 Soares_multiple_sclerosis_2NbHMSP Homo sapiens cDNA clone IMAGE:288741 3', mRNA sequencegi|1203109|gnl|dbEST|464920|gb|N592Nucleotide
-
X-linked retinitis pigmentosa GTPase regulator isoform G [Homo sapiens]
X-linked retinitis pigmentosa GTPase regulator isoform G [Homo sapiens]gi|1512432655|ref|NP_001354177.1|Protein
-
X-linked retinitis pigmentosa GTPase regulator isoform A [Homo sapiens]
X-linked retinitis pigmentosa GTPase regulator isoform A [Homo sapiens]gi|4506581|ref|NP_000319.1|Protein
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Last Updated: Sep 29, 2024