ClinVar

NM_002634.4(PHB1):c.456C>T (p.Asp152=)

Gene:

PHB1:prohibitin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.33

Genomic location:

• Chr17: 49409096 (on Assembly GRCh38)
• Chr17: 47486458 (on Assembly GRCh37)

Preferred name:

NM_002634.4(PHB1):c.456C>T (p.Asp152=)

HGVS:

• NC_000017.11:g.49409096G>A
• NG_023046.1:g.10785C>T
• NG_023046.2:g.10786C>T
• NM_001281496.2:c.456C>T
• NM_001281497.2:c.417+39C>T
• NM_001281715.2:c.456C>T
• NM_002634.4:c.456C>TMANE SELECT
• NP_001268425.1:p.Asp152=
• NP_001268644.1:p.Asp152=
• NP_002625.1:p.Asp152=
• NC_000017.10:g.47486458G>A
• NM_002634.3:c.456C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001281497.2:c.417+39C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001281496.2:c.456C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281715.2:c.456C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002634.4:c.456C>T - synonymous variant - [Sequence Ontology: SO:0001819]