ClinVar

NM_017777.4(MKS1):c.1613G>A (p.Arg538His)

Gene:

MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

• Chr17: 58206146 (on Assembly GRCh38)
• Chr17: 56283507 (on Assembly GRCh37)

Preferred name:

NM_017777.4(MKS1):c.1613G>A (p.Arg538His)

HGVS:

• NC_000017.11:g.58206146C>T
• NG_013020.1:g.18419C>T
• NG_013032.1:g.18460G>A
• NM_001321268.2:c.1004G>A
• NM_001321269.2:c.1530G>A
• NM_001330397.2:c.*25G>A
• NM_017777.4:c.1613G>AMANE SELECT
• NP_001308197.1:p.Arg335His
• NP_001308198.1:p.Pro510=
• NP_060247.2:p.Arg538His
• LRG_687t1:c.1613G>A
• LRG_687t2:c.1583G>A
• LRG_687:g.18460G>A
• LRG_687p2:p.Arg528His
• NC_000017.10:g.56283507C>T
• NC_000017.10:g.56283507C>T
• NM_017777.3:c.1613G>A

This HGVS expression did not pass validation

Protein change:

R335H

Links:

dbSNP: rs557678962

NCBI 1000 Genomes Browser:

rs557678962

Molecular consequence:

• NM_001330397.2:c.*25G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001321268.2:c.1004G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017777.4:c.1613G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321269.2:c.1530G>A - synonymous variant - [Sequence Ontology: SO:0001819]