ClinVar

NM_016492.5(RANGRF):c.2T>A (p.Met1Lys)

Genes:

RANGRF:RAN guanine nucleotide release factor [Gene - OMIM - HGNC]
SLC25A35:solute carrier family 25 member 35 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 8288790 (on Assembly GRCh38)
• Chr17: 8192108 (on Assembly GRCh37)

Preferred name:

NM_016492.5(RANGRF):c.2T>A (p.Met1Lys)

HGVS:

• NC_000017.11:g.8288790T>A
• NG_028189.1:g.5140T>A
• NM_001177801.2:c.2T>A
• NM_001177802.2:c.2T>A
• NM_001320871.2:c.*43-358A>T
• NM_001330127.2:c.2T>A
• NM_016492.5:c.2T>AMANE SELECT
• NM_201520.3:c.*826A>T
• NP_001171272.1:p.Met1Lys
• NP_001171273.1:p.Met1Lys
• NP_001317056.1:p.Met1Lys
• NP_057576.2:p.Met1Lys
• NC_000017.10:g.8192108T>A
• NR_135483.2:n.2371A>T

This HGVS expression did not pass validation

Protein change:

M1K

Links:

dbSNP: rs1230132538

NCBI 1000 Genomes Browser:

rs1230132538

Molecular consequence:

• NM_201520.3:c.*826A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001177801.2:c.2T>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001177802.2:c.2T>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001330127.2:c.2T>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_016492.5:c.2T>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001320871.2:c.*43-358A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001177801.2:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177802.2:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330127.2:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016492.5:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_135483.2:n.2371A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]