NM_014601.4(EHD2):c.1171G>C (p.Ala391Pro) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004177748.1
Allele description [Variation Report for NM_014601.4(EHD2):c.1171G>C (p.Ala391Pro)]
NM_014601.4(EHD2):c.1171G>C (p.Ala391Pro)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
nuclear pore complex-interacting protein family member B3 [Homo sapiens]
nuclear pore complex-interacting protein family member B3 [Homo sapiens]gi|291575122|ref|NP_569731.2|Protein
-
Enterococcus casseliflavus strain SDI-55 16S ribosomal RNA gene, partial sequenc...
Enterococcus casseliflavus strain SDI-55 16S ribosomal RNA gene, partial sequencegi|948272696|gb|KT021534.1|Nucleotide
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Last Updated: Jun 2, 2024