ClinVar

NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)

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: 89738965 (on Assembly GRCh38)
• Chr16: 89805373 (on Assembly GRCh37)

Preferred name:

NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)

HGVS:

• NC_000016.10:g.89738965C>T
• NG_011706.1:g.82693G>A
• NM_000135.4:c.4177G>AMANE SELECT
• NM_001113525.2:c.*719C>TMANE SELECT
• NM_001286167.3:c.4181G>A
• NM_152287.4:c.*719C>T
• NP_000126.2:p.Val1393Met
• NP_000126.2:p.Val1393Met
• NP_001273096.1:p.Arg1394His
• LRG_495t1:c.4177G>A
• LRG_495:g.82693G>A
• LRG_495p1:p.Val1393Met
• NC_000016.9:g.89805373C>T
• NM_000135.2:c.4177G>A
• NR_110122.2:n.2719C>T
• NR_110126.2:n.2602C>T
• NR_110128.2:n.2542C>T
• NR_110129.2:n.2636C>T

This HGVS expression did not pass validation

Protein change:

R1394H

Links:

dbSNP: rs199652831

NCBI 1000 Genomes Browser:

rs199652831

Molecular consequence:

• NM_001113525.2:c.*719C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_152287.4:c.*719C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000135.4:c.4177G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286167.3:c.4181G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_110122.2:n.2719C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110126.2:n.2602C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110128.2:n.2542C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110129.2:n.2636C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]