ClinVar

NM_020937.4(FANCM):c.30G>A (p.Gln10=)

Gene:

FANCM:FA complementation group M [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q21.2

Genomic location:

• Chr14: 45136061 (on Assembly GRCh38)
• Chr14: 45605264 (on Assembly GRCh37)

Preferred name:

NM_020937.4(FANCM):c.30G>A (p.Gln10=)

HGVS:

• NC_000014.9:g.45136061G>A
• NG_007417.1:g.5129G>A
• NM_001308133.2:c.30G>A
• NM_001308134.2:c.30G>A
• NM_020937.3:c.30G>A
• NM_020937.4:c.30G>AMANE SELECT
• NP_001295062.1:p.Gln10=
• NP_001295063.1:p.Gln10=
• NP_065988.1:p.Gln10=
• LRG_502t1:c.30G>A
• LRG_502:g.5129G>A
• NC_000014.8:g.45605264G>A
• NM_020937.2:c.30G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs145745979

NCBI 1000 Genomes Browser:

rs145745979

Molecular consequence:

• NM_001308133.2:c.30G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308134.2:c.30G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020937.4:c.30G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1