ClinVar

NM_001388459.1(FRMPD3):c.2797C>T (p.Leu933=)

Gene:

FRMPD3:FERM and PDZ domain containing 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 107600836 (on Assembly GRCh38)
• ChrX: 106844066 (on Assembly GRCh37)

Preferred name:

NM_001388459.1(FRMPD3):c.2797C>T (p.Leu933=)

HGVS:

• NC_000023.11:g.107600836C>T
• NG_147371.1:g.388C>T
• NM_001388459.1:c.2797C>TMANE SELECT
• NM_001388462.1:c.2392C>T
• NM_032428.2:c.2896C>T
• NP_001375388.1:p.Leu933=
• NP_001375391.1:p.Leu798=
• NP_115804.1:p.Leu966=
• NC_000023.10:g.106844066C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001388459.1:c.2797C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001388462.1:c.2392C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032428.2:c.2896C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1