ClinVar

NM_000135.4(FANCA):c.342C>T (p.Ala114=)

Gene:

FANCA:FA complementation group A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89811013 (on Assembly GRCh38)
• Chr16: 89877421 (on Assembly GRCh37)

Preferred name:

NM_000135.4(FANCA):c.342C>T (p.Ala114=)

HGVS:

• NC_000016.10:g.89811013G>A
• NG_011706.1:g.10645C>T
• NM_000135.3:c.342C>T
• NM_000135.4:c.342C>TMANE SELECT
• NM_001018112.3:c.342C>T
• NM_001286167.3:c.342C>T
• NM_001351830.2:c.342C>T
• NP_000126.2:p.Ala114=
• NP_001018122.1:p.Ala114=
• NP_001273096.1:p.Ala114=
• NP_001338759.1:p.Ala114=
• LRG_495t1:c.342C>T
• LRG_495:g.10645C>T
• NC_000016.9:g.89877421G>A
• NM_000135.2:c.342C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs777989691

NCBI 1000 Genomes Browser:

rs777989691

Molecular consequence:

• NM_000135.4:c.342C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001018112.3:c.342C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286167.3:c.342C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351830.2:c.342C>T - synonymous variant - [Sequence Ontology: SO:0001819]