ClinVar

NM_138803.4(CCDC148):c.659C>T (p.Pro220Leu)

Gene:

CCDC148:coiled-coil domain containing 148 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.1

Genomic location:

• Chr2: 158338831 (on Assembly GRCh38)
• Chr2: 159195343 (on Assembly GRCh37)

Preferred name:

NM_138803.4(CCDC148):c.659C>T (p.Pro220Leu)

HGVS:

• NC_000002.12:g.158338831G>A
• NM_001301684.2:c.221C>T
• NM_001301685.2:c.659C>T
• NM_138803.4:c.659C>TMANE SELECT
• NP_001288613.1:p.Pro74Leu
• NP_001288614.1:p.Pro220Leu
• NP_620158.3:p.Pro220Leu
• NC_000002.11:g.159195343G>A
• NM_138803.3:c.659C>T

This HGVS expression did not pass validation

Protein change:

P220L

Molecular consequence:

• NM_001301684.2:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001301685.2:c.659C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_138803.4:c.659C>T - missense variant - [Sequence Ontology: SO:0001583]