ClinVar

NM_014672.4(PRORP):c.311C>T (p.Ala104Val)

Genes:

PRORP-PSMA6:PRORP-PSMA6 readthrough [Gene]
PRORP:protein only RNase P catalytic subunit [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q13.2

Genomic location:

• Chr14: 35123556 (on Assembly GRCh38)
• Chr14: 35592762 (on Assembly GRCh37)

Preferred name:

NM_014672.4(PRORP):c.311C>T (p.Ala104Val)

HGVS:

• NC_000014.9:g.35123556C>T
• NM_001256678.2:c.311C>T
• NM_001256679.2:c.26C>T
• NM_001256680.2:c.-131+646C>T
• NM_001256681.2:c.-83+646C>T
• NM_001414503.1:c.311C>T
• NM_014672.4:c.311C>TMANE SELECT
• NP_001243607.1:p.Ala104Val
• NP_001243608.1:p.Ala9Val
• NP_001401432.1:p.Ala104Val
• NP_055487.2:p.Ala104Val
• NC_000014.8:g.35592762C>T
• NM_014672.2:c.311C>T
• NR_182666.1:n.819C>T
• NR_182667.1:n.689C>T
• NR_182668.1:n.689C>T
• NR_182669.1:n.821C>T

This HGVS expression did not pass validation

Protein change:

A104V

Molecular consequence:

• NM_001256680.2:c.-131+646C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256681.2:c.-83+646C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256678.2:c.311C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256679.2:c.26C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001414503.1:c.311C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014672.4:c.311C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_182666.1:n.819C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_182667.1:n.689C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_182668.1:n.689C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_182669.1:n.821C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]