ClinVar

NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln)

Gene:

SPINK5:serine peptidase inhibitor Kazal type 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

• Chr5: 148118456 (on Assembly GRCh38)
• Chr5: 147498019 (on Assembly GRCh37)

Preferred name:

NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln)

HGVS:

• NC_000005.10:g.148118456G>A
• NG_009633.1:g.59485G>A
• NM_001127698.2:c.2132G>A
• NM_001127699.2:c.2132G>A
• NM_006846.4:c.2132G>AMANE SELECT
• NP_001121170.1:p.Arg711Gln
• NP_001121171.1:p.Arg711Gln
• NP_006837.2:p.Arg711Gln
• NP_006837.2:p.Arg711Gln
• LRG_110t1:c.2132G>A
• LRG_110:g.59485G>A
• LRG_110p1:p.Arg711Gln
• NC_000005.9:g.147498019G>A
• NM_001127698.1:c.2132G>A
• NM_006846.3:c.2132G>A
• Q9NQ38:p.Arg711Gln

This HGVS expression did not pass validation

Protein change:

R711Q

Links:

UniProtKB: Q9NQ38#VAR_047121; dbSNP: rs3777134

NCBI 1000 Genomes Browser:

rs3777134

Molecular consequence:

• NM_001127698.2:c.2132G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127699.2:c.2132G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006846.4:c.2132G>A - missense variant - [Sequence Ontology: SO:0001583]