ClinVar

NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met)

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: 89738954 (on Assembly GRCh38)
• Chr16: 89805362 (on Assembly GRCh37)

Preferred name:

NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met)

Other names:

p.Ile1396Met

HGVS:

• NC_000016.10:g.89738954T>C
• NG_011706.1:g.82704A>G
• NM_000135.4:c.4188A>GMANE SELECT
• NM_001113525.2:c.*708T>CMANE SELECT
• NM_001286167.3:c.4192A>G
• NM_152287.4:c.*708T>C
• NP_000126.2:p.Ile1396Met
• NP_000126.2:p.Ile1396Met
• NP_001273096.1:p.Asn1398Asp
• LRG_495t1:c.4188A>G
• LRG_495:g.82704A>G
• LRG_495p1:p.Ile1396Met
• NC_000016.9:g.89805362T>C
• NM_000135.2:c.4188A>G
• NM_000135.2:c.4188A>G
• NR_110122.2:n.2708T>C
• NR_110126.2:n.2591T>C
• NR_110128.2:n.2531T>C
• NR_110129.2:n.2625T>C

This HGVS expression did not pass validation

Protein change:

I1396M

Links:

dbSNP: rs1441175300

NCBI 1000 Genomes Browser:

rs1441175300

Molecular consequence:

• NM_001113525.2:c.*708T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_152287.4:c.*708T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000135.4:c.4188A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286167.3:c.4192A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_110122.2:n.2708T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110126.2:n.2591T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110128.2:n.2531T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_110129.2:n.2625T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

3