ClinVar

NM_000135.4(FANCA):c.4113G>T (p.Gly1371=)

Genes:

FANCA:FA complementation group A [Gene - OMIM - HGNC]
ZNF276:zinc finger protein 276 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

• Chr16: 89739187 (on Assembly GRCh38)
• Chr16: 89805595 (on Assembly GRCh37)

Preferred name:

NM_000135.4(FANCA):c.4113G>T (p.Gly1371=)

HGVS:

• NC_000016.10:g.89739187C>A
• NG_011706.1:g.82471G>T
• NM_000135.4:c.4113G>TMANE SELECT
• NM_001113525.2:c.*941C>AMANE SELECT
• NM_001286167.3:c.4113G>T
• NM_152287.4:c.*941C>A
• NP_000126.2:p.Gly1371=
• NP_000126.2:p.Gly1371=
• NP_001273096.1:p.Gly1371=
• LRG_495t1:c.4113G>T
• LRG_495:g.82471G>T
• LRG_495p1:p.Gly1371=
• NC_000016.9:g.89805595C>A
• NM_000135.2:c.4113G>T
• NR_110122.2:n.2941C>A
• NR_110126.2:n.2824C>A
• NR_110128.2:n.2764C>A
• NR_110129.2:n.2858C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1060501882

NCBI 1000 Genomes Browser:

rs1060501882

Molecular consequence:

• NM_001113525.2:c.*941C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_152287.4:c.*941C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_110122.2:n.2941C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110126.2:n.2824C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110128.2:n.2764C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110129.2:n.2858C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000135.4:c.4113G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286167.3:c.4113G>T - synonymous variant - [Sequence Ontology: SO:0001819]