ClinVar

NM_003931.3(WASF1):c.1398T>G (p.His466Gln)

Gene:

WASF1:WASP family member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q21

Genomic location:

• Chr6: 110101712 (on Assembly GRCh38)
• Chr6: 110422915 (on Assembly GRCh37)

Preferred name:

NM_003931.3(WASF1):c.1398T>G (p.His466Gln)

HGVS:

• NC_000006.12:g.110101712A>C
• NM_001024934.2:c.1398T>G
• NM_001024935.2:c.1398T>G
• NM_001024936.2:c.1398T>G
• NM_003931.3:c.1398T>GMANE SELECT
• NP_001020105.1:p.His466Gln
• NP_001020106.1:p.His466Gln
• NP_001020107.1:p.His466Gln
• NP_003922.1:p.His466Gln
• NC_000006.11:g.110422915A>C

This HGVS expression did not pass validation

Protein change:

H466Q

Molecular consequence:

• NM_001024934.2:c.1398T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001024935.2:c.1398T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001024936.2:c.1398T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003931.3:c.1398T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1