ClinVar

NM_001368397.1(FRMPD4):c.42-10dup

Gene:

FRMPD4:FERM and PDZ domain containing 4 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 12498658 - 12498659 (on Assembly GRCh38)
• ChrX: 12516789 (on Assembly GRCh37)

Preferred name:

NM_001368397.1(FRMPD4):c.42-10dup

HGVS:

• NC_000023.11:g.12498670dup
• NG_016419.3:g.681210dup
• NM_001368395.3:c.153-10dup
• NM_001368396.3:c.42-10dup
• NM_001368397.1:c.42-10dupMANE SELECT
• NM_001368398.3:c.153-10dup
• NM_001368399.3:c.33-10dup
• NM_001368400.3:c.-79-10dup
• NM_001368401.1:c.18-10dup
• NM_001368402.3:c.18-10dup
• NM_014728.3:c.42-10dup
• NC_000023.10:g.12516789dup

This HGVS expression did not pass validation

Links:

dbSNP: rs111618469

NCBI 1000 Genomes Browser:

rs111618469

Molecular consequence:

• NM_001368395.3:c.153-10dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368396.3:c.42-10dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368397.1:c.42-10dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368398.3:c.153-10dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368399.3:c.33-10dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368400.3:c.-79-10dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368401.1:c.18-10dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001368402.3:c.18-10dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_014728.3:c.42-10dup - intron variant - [Sequence Ontology: SO:0001627]

Observations:

3