ClinVar

NM_198687.2(KRTAP10-4):c.46C>T (p.Leu16Phe)

Genes:

KRTAP10-4:keratin associated protein 10-4 [Gene - HGNC]
TSPEAR:thrombospondin type laminin G domain and EAR repeats [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

• Chr21: 44573804 (on Assembly GRCh38)
• Chr21: 45993681 (on Assembly GRCh37)

Preferred name:

NM_198687.2(KRTAP10-4):c.46C>T (p.Leu16Phe)

HGVS:

• NC_000021.9:g.44573804C>T
• NG_033806.1:g.142775G>A
• NG_033806.2:g.142768G>A
• NM_001272037.2:c.-122-5799G>A
• NM_144991.3:c.83-5799G>AMANE SELECT
• NM_198687.2:c.46C>TMANE SELECT
• NP_941960.2:p.Leu16Phe
• NC_000021.8:g.45993681C>T
• NM_198687.1:c.46C>T

This HGVS expression did not pass validation

Protein change:

L16F

Molecular consequence:

• NM_001272037.2:c.-122-5799G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_144991.3:c.83-5799G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_198687.2:c.46C>T - missense variant - [Sequence Ontology: SO:0001583]