ClinVar

NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu)

Gene:

FANCB:FA complementation group B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 14844578 (on Assembly GRCh38)
• ChrX: 14862700 (on Assembly GRCh37)

Preferred name:

NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu)

HGVS:

• NC_000023.11:g.14844578G>A
• NG_007310.1:g.33485C>T
• NM_001018113.3:c.2090C>TMANE SELECT
• NM_001324162.2:c.2090C>T
• NM_152633.4:c.2090C>T
• NP_001018123.1:p.Pro697Leu
• NP_001311091.1:p.Pro697Leu
• NP_689846.1:p.Pro697Leu
• LRG_496t1:c.2090C>T
• LRG_496:g.33485C>T
• NC_000023.10:g.14862700G>A
• NM_001018113.1:c.2090C>T
• NM_001018113.2:c.2090C>T

This HGVS expression did not pass validation

Protein change:

P697L

Links:

dbSNP: rs147255018

NCBI 1000 Genomes Browser:

rs147255018

Molecular consequence:

• NM_001018113.3:c.2090C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324162.2:c.2090C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_152633.4:c.2090C>T - missense variant - [Sequence Ontology: SO:0001583]