ClinVar

NM_017777.4(MKS1):c.371G>A (p.Arg124Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q22

Genomic location:

• Chr17: 58216134 (on Assembly GRCh38)
• Chr17: 56293495 (on Assembly GRCh37)

Preferred name:

NM_017777.4(MKS1):c.371G>A (p.Arg124Gln)

HGVS:

• NC_000017.11:g.58216134C>T
• NG_013032.1:g.8472G>A
• NM_001321268.2:c.-141G>A
• NM_001321269.2:c.371G>A
• NM_001330397.2:c.371G>A
• NM_017777.4:c.371G>AMANE SELECT
• NP_001308198.1:p.Arg124Gln
• NP_001317326.1:p.Arg124Gln
• NP_060247.2:p.Arg124Gln
• NP_060247.2:p.Arg124Gln
• LRG_687t1:c.371G>A
• LRG_687:g.8472G>A
• LRG_687p1:p.Arg124Gln
• NC_000017.10:g.56293495C>T
• NM_017777.3:c.371G>A

This HGVS expression did not pass validation

Protein change:

R124Q

Links:

dbSNP: rs765026950

NCBI 1000 Genomes Browser:

rs765026950

Molecular consequence:

• NM_001321268.2:c.-141G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001321269.2:c.371G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330397.2:c.371G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017777.4:c.371G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1