ClinVar

NM_000409.5(GUCA1ANB-GUCA1A):c.262G>T (p.Val88Leu)

Genes:

GUCA1ANB-GUCA1A:GUCA1ANB-GUCA1A readthrough [Gene - HGNC]
GUCA1A:guanylate cyclase activator 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

• Chr6: 42178340 (on Assembly GRCh38)
• Chr6: 42146078 (on Assembly GRCh37)

Preferred name:

NM_000409.5(GUCA1ANB-GUCA1A):c.262G>T (p.Val88Leu)

HGVS:

• NC_000006.12:g.42178340G>T
• NG_009938.1:g.27935G>T
• NM_000409.5:c.262G>T
• NM_001319061.2:c.262G>T
• NM_001319062.2:c.262G>T
• NM_001384910.1:c.262G>TMANE SELECT
• NP_000400.2:p.Val88Leu
• NP_001305990.1:p.Val88Leu
• NP_001305991.1:p.Val88Leu
• NP_001371839.1:p.Val88Leu
• NC_000006.11:g.42146078G>T
• NM_000409.3:c.262G>T

This HGVS expression did not pass validation

Protein change:

V88L

Links:

dbSNP: rs1768014957

NCBI 1000 Genomes Browser:

rs1768014957

Molecular consequence:

• NM_000409.5:c.262G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319061.2:c.262G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319062.2:c.262G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384910.1:c.262G>T - missense variant - [Sequence Ontology: SO:0001583]