ClinVar

NM_198687.2(KRTAP10-4):c.197C>T (p.Pro66Leu)

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: 44573955 (on Assembly GRCh38)
• Chr21: 45993832 (on Assembly GRCh37)

Preferred name:

NM_198687.2(KRTAP10-4):c.197C>T (p.Pro66Leu)

HGVS:

• NC_000021.9:g.44573955C>T
• NG_033806.1:g.142624G>A
• NG_033806.2:g.142617G>A
• NG_144578.1:g.112C>T
• NM_001272037.2:c.-122-5950G>A
• NM_144991.3:c.83-5950G>AMANE SELECT
• NM_198687.2:c.197C>TMANE SELECT
• NP_941960.2:p.Pro66Leu
• NC_000021.8:g.45993832C>T
• NM_198687.1:c.197C>T

This HGVS expression did not pass validation

Protein change:

P66L

Molecular consequence:

• NM_001272037.2:c.-122-5950G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_144991.3:c.83-5950G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_198687.2:c.197C>T - missense variant - [Sequence Ontology: SO:0001583]