ClinVar

NM_207418.3(FAM72D):c.303C>A (p.Phe101Leu)

Gene:

FAM72D:family with sequence similarity 72 member D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.1

Genomic location:

• Chr1: 145103079 (on Assembly GRCh38)
• Chr1: 143906064 (on Assembly GRCh37)

Preferred name:

NM_207418.3(FAM72D):c.303C>A (p.Phe101Leu)

HGVS:

• NC_000001.11:g.145103079C>A
• NM_001345942.2:c.303C>A
• NM_207418.3:c.303C>AMANE SELECT
• NP_001332871.1:p.Phe101Leu
• NP_997301.2:p.Phe101Leu
• NC_000001.10:g.143906064G>T
• NM_207418.2:c.303C>A
• NR_144320.2:n.477C>A

This HGVS expression did not pass validation

Protein change:

F101L

Molecular consequence:

• NM_001345942.2:c.303C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_207418.3:c.303C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_144320.2:n.477C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]