ClinVar

NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)

Gene:

FANCE:FA complementation group E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.31

Genomic location:

• Chr6: 35458304 (on Assembly GRCh38)
• Chr6: 35426081 (on Assembly GRCh37)

Preferred name:

NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)

HGVS:

• NC_000006.12:g.35458304T>G
• NG_011708.1:g.10944T>G
• NM_021922.3:c.977T>GMANE SELECT
• NP_068741.1:p.Leu326Trp
• NP_068741.1:p.Leu326Trp
• LRG_498t1:c.977T>G
• LRG_498:g.10944T>G
• LRG_498p1:p.Leu326Trp
• NC_000006.11:g.35426081T>G
• NM_021922.2:c.977T>G

This HGVS expression did not pass validation

Protein change:

L326W

Links:

dbSNP: rs779336261

NCBI 1000 Genomes Browser:

rs779336261

Molecular consequence:

• NM_021922.3:c.977T>G - missense variant - [Sequence Ontology: SO:0001583]